NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) AND not specified
- Germline classification:
- Benign/Likely benign (15 submissions)
- Last evaluated:
- Feb 6, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000120280.52
Allele description [Variation Report for NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)]
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
- Other names:
- p.R1347G:AGA>GGA
- HGVS:
- NC_000017.11:g.43091492T>C
- NG_005905.2:g.126492A>G
- NG_087068.1:g.474T>C
- NM_001407571.1:c.3826A>G
- NM_001407581.1:c.4039A>G
- NM_001407582.1:c.4039A>G
- NM_001407583.1:c.4039A>G
- NM_001407585.1:c.4039A>G
- NM_001407587.1:c.4036A>G
- NM_001407590.1:c.4036A>G
- NM_001407591.1:c.4036A>G
- NM_001407593.1:c.4039A>G
- NM_001407594.1:c.4039A>G
- NM_001407596.1:c.4039A>G
- NM_001407597.1:c.4039A>G
- NM_001407598.1:c.4039A>G
- NM_001407602.1:c.4039A>G
- NM_001407603.1:c.4039A>G
- NM_001407605.1:c.4039A>G
- NM_001407610.1:c.4036A>G
- NM_001407611.1:c.4036A>G
- NM_001407612.1:c.4036A>G
- NM_001407613.1:c.4036A>G
- NM_001407614.1:c.4036A>G
- NM_001407615.1:c.4036A>G
- NM_001407616.1:c.4039A>G
- NM_001407617.1:c.4039A>G
- NM_001407618.1:c.4039A>G
- NM_001407619.1:c.4039A>G
- NM_001407620.1:c.4039A>G
- NM_001407621.1:c.4039A>G
- NM_001407622.1:c.4039A>G
- NM_001407623.1:c.4039A>G
- NM_001407624.1:c.4039A>G
- NM_001407625.1:c.4039A>G
- NM_001407626.1:c.4039A>G
- NM_001407627.1:c.4036A>G
- NM_001407628.1:c.4036A>G
- NM_001407629.1:c.4036A>G
- NM_001407630.1:c.4036A>G
- NM_001407631.1:c.4036A>G
- NM_001407632.1:c.4036A>G
- NM_001407633.1:c.4036A>G
- NM_001407634.1:c.4036A>G
- NM_001407635.1:c.4036A>G
- NM_001407636.1:c.4036A>G
- NM_001407637.1:c.4036A>G
- NM_001407638.1:c.4036A>G
- NM_001407639.1:c.4039A>G
- NM_001407640.1:c.4039A>G
- NM_001407641.1:c.4039A>G
- NM_001407642.1:c.4039A>G
- NM_001407644.1:c.4036A>G
- NM_001407645.1:c.4036A>G
- NM_001407646.1:c.4030A>G
- NM_001407647.1:c.4030A>G
- NM_001407648.1:c.3916A>G
- NM_001407649.1:c.3913A>G
- NM_001407652.1:c.4039A>G
- NM_001407653.1:c.3961A>G
- NM_001407654.1:c.3961A>G
- NM_001407655.1:c.3961A>G
- NM_001407656.1:c.3961A>G
- NM_001407657.1:c.3961A>G
- NM_001407658.1:c.3961A>G
- NM_001407659.1:c.3958A>G
- NM_001407660.1:c.3958A>G
- NM_001407661.1:c.3958A>G
- NM_001407662.1:c.3958A>G
- NM_001407663.1:c.3961A>G
- NM_001407664.1:c.3916A>G
- NM_001407665.1:c.3916A>G
- NM_001407666.1:c.3916A>G
- NM_001407667.1:c.3916A>G
- NM_001407668.1:c.3916A>G
- NM_001407669.1:c.3916A>G
- NM_001407670.1:c.3913A>G
- NM_001407671.1:c.3913A>G
- NM_001407672.1:c.3913A>G
- NM_001407673.1:c.3913A>G
- NM_001407674.1:c.3916A>G
- NM_001407675.1:c.3916A>G
- NM_001407676.1:c.3916A>G
- NM_001407677.1:c.3916A>G
- NM_001407678.1:c.3916A>G
- NM_001407679.1:c.3916A>G
- NM_001407680.1:c.3916A>G
- NM_001407681.1:c.3916A>G
- NM_001407682.1:c.3916A>G
- NM_001407683.1:c.3916A>G
- NM_001407684.1:c.4039A>G
- NM_001407685.1:c.3913A>G
- NM_001407686.1:c.3913A>G
- NM_001407687.1:c.3913A>G
- NM_001407688.1:c.3913A>G
- NM_001407689.1:c.3913A>G
- NM_001407690.1:c.3913A>G
- NM_001407691.1:c.3913A>G
- NM_001407692.1:c.3898A>G
- NM_001407694.1:c.3898A>G
- NM_001407695.1:c.3898A>G
- NM_001407696.1:c.3898A>G
- NM_001407697.1:c.3898A>G
- NM_001407698.1:c.3898A>G
- NM_001407724.1:c.3898A>G
- NM_001407725.1:c.3898A>G
- NM_001407726.1:c.3898A>G
- NM_001407727.1:c.3898A>G
- NM_001407728.1:c.3898A>G
- NM_001407729.1:c.3898A>G
- NM_001407730.1:c.3898A>G
- NM_001407731.1:c.3898A>G
- NM_001407732.1:c.3898A>G
- NM_001407733.1:c.3898A>G
- NM_001407734.1:c.3898A>G
- NM_001407735.1:c.3898A>G
- NM_001407736.1:c.3898A>G
- NM_001407737.1:c.3898A>G
- NM_001407738.1:c.3898A>G
- NM_001407739.1:c.3898A>G
- NM_001407740.1:c.3895A>G
- NM_001407741.1:c.3895A>G
- NM_001407742.1:c.3895A>G
- NM_001407743.1:c.3895A>G
- NM_001407744.1:c.3895A>G
- NM_001407745.1:c.3895A>G
- NM_001407746.1:c.3895A>G
- NM_001407747.1:c.3895A>G
- NM_001407748.1:c.3895A>G
- NM_001407749.1:c.3895A>G
- NM_001407750.1:c.3898A>G
- NM_001407751.1:c.3898A>G
- NM_001407752.1:c.3898A>G
- NM_001407838.1:c.3895A>G
- NM_001407839.1:c.3895A>G
- NM_001407841.1:c.3895A>G
- NM_001407842.1:c.3895A>G
- NM_001407843.1:c.3895A>G
- NM_001407844.1:c.3895A>G
- NM_001407845.1:c.3895A>G
- NM_001407846.1:c.3895A>G
- NM_001407847.1:c.3895A>G
- NM_001407848.1:c.3895A>G
- NM_001407849.1:c.3895A>G
- NM_001407850.1:c.3898A>G
- NM_001407851.1:c.3898A>G
- NM_001407852.1:c.3898A>G
- NM_001407853.1:c.3826A>G
- NM_001407854.1:c.4039A>G
- NM_001407858.1:c.4039A>G
- NM_001407859.1:c.4039A>G
- NM_001407860.1:c.4036A>G
- NM_001407861.1:c.4036A>G
- NM_001407862.1:c.3838A>G
- NM_001407863.1:c.3916A>G
- NM_001407874.1:c.3835A>G
- NM_001407875.1:c.3835A>G
- NM_001407879.1:c.3829A>G
- NM_001407881.1:c.3829A>G
- NM_001407882.1:c.3829A>G
- NM_001407884.1:c.3829A>G
- NM_001407885.1:c.3829A>G
- NM_001407886.1:c.3829A>G
- NM_001407887.1:c.3829A>G
- NM_001407889.1:c.3829A>G
- NM_001407894.1:c.3826A>G
- NM_001407895.1:c.3826A>G
- NM_001407896.1:c.3826A>G
- NM_001407897.1:c.3826A>G
- NM_001407898.1:c.3826A>G
- NM_001407899.1:c.3826A>G
- NM_001407900.1:c.3829A>G
- NM_001407902.1:c.3829A>G
- NM_001407904.1:c.3829A>G
- NM_001407906.1:c.3829A>G
- NM_001407907.1:c.3829A>G
- NM_001407908.1:c.3829A>G
- NM_001407909.1:c.3829A>G
- NM_001407910.1:c.3829A>G
- NM_001407915.1:c.3826A>G
- NM_001407916.1:c.3826A>G
- NM_001407917.1:c.3826A>G
- NM_001407918.1:c.3826A>G
- NM_001407919.1:c.3916A>G
- NM_001407920.1:c.3775A>G
- NM_001407921.1:c.3775A>G
- NM_001407922.1:c.3775A>G
- NM_001407923.1:c.3775A>G
- NM_001407924.1:c.3775A>G
- NM_001407925.1:c.3775A>G
- NM_001407926.1:c.3775A>G
- NM_001407927.1:c.3775A>G
- NM_001407928.1:c.3775A>G
- NM_001407929.1:c.3775A>G
- NM_001407930.1:c.3772A>G
- NM_001407931.1:c.3772A>G
- NM_001407932.1:c.3772A>G
- NM_001407933.1:c.3775A>G
- NM_001407934.1:c.3772A>G
- NM_001407935.1:c.3775A>G
- NM_001407936.1:c.3772A>G
- NM_001407937.1:c.3916A>G
- NM_001407938.1:c.3916A>G
- NM_001407939.1:c.3916A>G
- NM_001407940.1:c.3913A>G
- NM_001407941.1:c.3913A>G
- NM_001407942.1:c.3898A>G
- NM_001407943.1:c.3895A>G
- NM_001407944.1:c.3898A>G
- NM_001407945.1:c.3898A>G
- NM_001407946.1:c.3706A>G
- NM_001407947.1:c.3706A>G
- NM_001407948.1:c.3706A>G
- NM_001407949.1:c.3706A>G
- NM_001407950.1:c.3706A>G
- NM_001407951.1:c.3706A>G
- NM_001407952.1:c.3706A>G
- NM_001407953.1:c.3706A>G
- NM_001407954.1:c.3703A>G
- NM_001407955.1:c.3703A>G
- NM_001407956.1:c.3703A>G
- NM_001407957.1:c.3706A>G
- NM_001407958.1:c.3703A>G
- NM_001407959.1:c.3658A>G
- NM_001407960.1:c.3658A>G
- NM_001407962.1:c.3655A>G
- NM_001407963.1:c.3658A>G
- NM_001407964.1:c.3895A>G
- NM_001407965.1:c.3535A>G
- NM_001407966.1:c.3151A>G
- NM_001407967.1:c.3151A>G
- NM_001407968.1:c.1435A>G
- NM_001407969.1:c.1435A>G
- NM_001407970.1:c.788-460A>G
- NM_001407971.1:c.788-460A>G
- NM_001407972.1:c.785-460A>G
- NM_001407973.1:c.788-460A>G
- NM_001407974.1:c.788-460A>G
- NM_001407975.1:c.788-460A>G
- NM_001407976.1:c.788-460A>G
- NM_001407977.1:c.788-460A>G
- NM_001407978.1:c.788-460A>G
- NM_001407979.1:c.788-460A>G
- NM_001407980.1:c.788-460A>G
- NM_001407981.1:c.788-460A>G
- NM_001407982.1:c.788-460A>G
- NM_001407983.1:c.788-460A>G
- NM_001407984.1:c.785-460A>G
- NM_001407985.1:c.785-460A>G
- NM_001407986.1:c.785-460A>G
- NM_001407990.1:c.788-460A>G
- NM_001407991.1:c.785-460A>G
- NM_001407992.1:c.785-460A>G
- NM_001407993.1:c.788-460A>G
- NM_001408392.1:c.785-460A>G
- NM_001408396.1:c.785-460A>G
- NM_001408397.1:c.785-460A>G
- NM_001408398.1:c.785-460A>G
- NM_001408399.1:c.785-460A>G
- NM_001408400.1:c.785-460A>G
- NM_001408401.1:c.785-460A>G
- NM_001408402.1:c.785-460A>G
- NM_001408403.1:c.788-460A>G
- NM_001408404.1:c.788-460A>G
- NM_001408406.1:c.791-469A>G
- NM_001408407.1:c.785-460A>G
- NM_001408408.1:c.779-460A>G
- NM_001408409.1:c.710-460A>G
- NM_001408410.1:c.647-460A>G
- NM_001408411.1:c.710-460A>G
- NM_001408412.1:c.710-460A>G
- NM_001408413.1:c.707-460A>G
- NM_001408414.1:c.710-460A>G
- NM_001408415.1:c.710-460A>G
- NM_001408416.1:c.707-460A>G
- NM_001408418.1:c.671-460A>G
- NM_001408419.1:c.671-460A>G
- NM_001408420.1:c.671-460A>G
- NM_001408421.1:c.668-460A>G
- NM_001408422.1:c.671-460A>G
- NM_001408423.1:c.671-460A>G
- NM_001408424.1:c.668-460A>G
- NM_001408425.1:c.665-460A>G
- NM_001408426.1:c.665-460A>G
- NM_001408427.1:c.665-460A>G
- NM_001408428.1:c.665-460A>G
- NM_001408429.1:c.665-460A>G
- NM_001408430.1:c.665-460A>G
- NM_001408431.1:c.668-460A>G
- NM_001408432.1:c.662-460A>G
- NM_001408433.1:c.662-460A>G
- NM_001408434.1:c.662-460A>G
- NM_001408435.1:c.662-460A>G
- NM_001408436.1:c.665-460A>G
- NM_001408437.1:c.665-460A>G
- NM_001408438.1:c.665-460A>G
- NM_001408439.1:c.665-460A>G
- NM_001408440.1:c.665-460A>G
- NM_001408441.1:c.665-460A>G
- NM_001408442.1:c.665-460A>G
- NM_001408443.1:c.665-460A>G
- NM_001408444.1:c.665-460A>G
- NM_001408445.1:c.662-460A>G
- NM_001408446.1:c.662-460A>G
- NM_001408447.1:c.662-460A>G
- NM_001408448.1:c.662-460A>G
- NM_001408450.1:c.662-460A>G
- NM_001408451.1:c.653-460A>G
- NM_001408452.1:c.647-460A>G
- NM_001408453.1:c.647-460A>G
- NM_001408454.1:c.647-460A>G
- NM_001408455.1:c.647-460A>G
- NM_001408456.1:c.647-460A>G
- NM_001408457.1:c.647-460A>G
- NM_001408458.1:c.647-460A>G
- NM_001408459.1:c.647-460A>G
- NM_001408460.1:c.647-460A>G
- NM_001408461.1:c.647-460A>G
- NM_001408462.1:c.644-460A>G
- NM_001408463.1:c.644-460A>G
- NM_001408464.1:c.644-460A>G
- NM_001408465.1:c.644-460A>G
- NM_001408466.1:c.647-460A>G
- NM_001408467.1:c.647-460A>G
- NM_001408468.1:c.644-460A>G
- NM_001408469.1:c.647-460A>G
- NM_001408470.1:c.644-460A>G
- NM_001408472.1:c.788-460A>G
- NM_001408473.1:c.785-460A>G
- NM_001408474.1:c.587-460A>G
- NM_001408475.1:c.584-460A>G
- NM_001408476.1:c.587-460A>G
- NM_001408478.1:c.578-460A>G
- NM_001408479.1:c.578-460A>G
- NM_001408480.1:c.578-460A>G
- NM_001408481.1:c.578-460A>G
- NM_001408482.1:c.578-460A>G
- NM_001408483.1:c.578-460A>G
- NM_001408484.1:c.578-460A>G
- NM_001408485.1:c.578-460A>G
- NM_001408489.1:c.578-460A>G
- NM_001408490.1:c.575-460A>G
- NM_001408491.1:c.575-460A>G
- NM_001408492.1:c.578-460A>G
- NM_001408493.1:c.575-460A>G
- NM_001408494.1:c.548-460A>G
- NM_001408495.1:c.545-460A>G
- NM_001408496.1:c.524-460A>G
- NM_001408497.1:c.524-460A>G
- NM_001408498.1:c.524-460A>G
- NM_001408499.1:c.524-460A>G
- NM_001408500.1:c.524-460A>G
- NM_001408501.1:c.524-460A>G
- NM_001408502.1:c.455-460A>G
- NM_001408503.1:c.521-460A>G
- NM_001408504.1:c.521-460A>G
- NM_001408505.1:c.521-460A>G
- NM_001408506.1:c.461-460A>G
- NM_001408507.1:c.461-460A>G
- NM_001408508.1:c.452-460A>G
- NM_001408509.1:c.452-460A>G
- NM_001408510.1:c.407-460A>G
- NM_001408511.1:c.404-460A>G
- NM_001408512.1:c.284-460A>G
- NM_001408513.1:c.578-460A>G
- NM_001408514.1:c.578-460A>G
- NM_007294.4:c.4039A>GMANE SELECT
- NM_007297.4:c.3898A>G
- NM_007298.4:c.788-460A>G
- NM_007299.4:c.788-460A>G
- NM_007300.4:c.4039A>G
- NP_001394500.1:p.Arg1276Gly
- NP_001394510.1:p.Arg1347Gly
- NP_001394511.1:p.Arg1347Gly
- NP_001394512.1:p.Arg1347Gly
- NP_001394514.1:p.Arg1347Gly
- NP_001394516.1:p.Arg1346Gly
- NP_001394519.1:p.Arg1346Gly
- NP_001394520.1:p.Arg1346Gly
- NP_001394522.1:p.Arg1347Gly
- NP_001394523.1:p.Arg1347Gly
- NP_001394525.1:p.Arg1347Gly
- NP_001394526.1:p.Arg1347Gly
- NP_001394527.1:p.Arg1347Gly
- NP_001394531.1:p.Arg1347Gly
- NP_001394532.1:p.Arg1347Gly
- NP_001394534.1:p.Arg1347Gly
- NP_001394539.1:p.Arg1346Gly
- NP_001394540.1:p.Arg1346Gly
- NP_001394541.1:p.Arg1346Gly
- NP_001394542.1:p.Arg1346Gly
- NP_001394543.1:p.Arg1346Gly
- NP_001394544.1:p.Arg1346Gly
- NP_001394545.1:p.Arg1347Gly
- NP_001394546.1:p.Arg1347Gly
- NP_001394547.1:p.Arg1347Gly
- NP_001394548.1:p.Arg1347Gly
- NP_001394549.1:p.Arg1347Gly
- NP_001394550.1:p.Arg1347Gly
- NP_001394551.1:p.Arg1347Gly
- NP_001394552.1:p.Arg1347Gly
- NP_001394553.1:p.Arg1347Gly
- NP_001394554.1:p.Arg1347Gly
- NP_001394555.1:p.Arg1347Gly
- NP_001394556.1:p.Arg1346Gly
- NP_001394557.1:p.Arg1346Gly
- NP_001394558.1:p.Arg1346Gly
- NP_001394559.1:p.Arg1346Gly
- NP_001394560.1:p.Arg1346Gly
- NP_001394561.1:p.Arg1346Gly
- NP_001394562.1:p.Arg1346Gly
- NP_001394563.1:p.Arg1346Gly
- NP_001394564.1:p.Arg1346Gly
- NP_001394565.1:p.Arg1346Gly
- NP_001394566.1:p.Arg1346Gly
- NP_001394567.1:p.Arg1346Gly
- NP_001394568.1:p.Arg1347Gly
- NP_001394569.1:p.Arg1347Gly
- NP_001394570.1:p.Arg1347Gly
- NP_001394571.1:p.Arg1347Gly
- NP_001394573.1:p.Arg1346Gly
- NP_001394574.1:p.Arg1346Gly
- NP_001394575.1:p.Arg1344Gly
- NP_001394576.1:p.Arg1344Gly
- NP_001394577.1:p.Arg1306Gly
- NP_001394578.1:p.Arg1305Gly
- NP_001394581.1:p.Arg1347Gly
- NP_001394582.1:p.Arg1321Gly
- NP_001394583.1:p.Arg1321Gly
- NP_001394584.1:p.Arg1321Gly
- NP_001394585.1:p.Arg1321Gly
- NP_001394586.1:p.Arg1321Gly
- NP_001394587.1:p.Arg1321Gly
- NP_001394588.1:p.Arg1320Gly
- NP_001394589.1:p.Arg1320Gly
- NP_001394590.1:p.Arg1320Gly
- NP_001394591.1:p.Arg1320Gly
- NP_001394592.1:p.Arg1321Gly
- NP_001394593.1:p.Arg1306Gly
- NP_001394594.1:p.Arg1306Gly
- NP_001394595.1:p.Arg1306Gly
- NP_001394596.1:p.Arg1306Gly
- NP_001394597.1:p.Arg1306Gly
- NP_001394598.1:p.Arg1306Gly
- NP_001394599.1:p.Arg1305Gly
- NP_001394600.1:p.Arg1305Gly
- NP_001394601.1:p.Arg1305Gly
- NP_001394602.1:p.Arg1305Gly
- NP_001394603.1:p.Arg1306Gly
- NP_001394604.1:p.Arg1306Gly
- NP_001394605.1:p.Arg1306Gly
- NP_001394606.1:p.Arg1306Gly
- NP_001394607.1:p.Arg1306Gly
- NP_001394608.1:p.Arg1306Gly
- NP_001394609.1:p.Arg1306Gly
- NP_001394610.1:p.Arg1306Gly
- NP_001394611.1:p.Arg1306Gly
- NP_001394612.1:p.Arg1306Gly
- NP_001394613.1:p.Arg1347Gly
- NP_001394614.1:p.Arg1305Gly
- NP_001394615.1:p.Arg1305Gly
- NP_001394616.1:p.Arg1305Gly
- NP_001394617.1:p.Arg1305Gly
- NP_001394618.1:p.Arg1305Gly
- NP_001394619.1:p.Arg1305Gly
- NP_001394620.1:p.Arg1305Gly
- NP_001394621.1:p.Arg1300Gly
- NP_001394623.1:p.Arg1300Gly
- NP_001394624.1:p.Arg1300Gly
- NP_001394625.1:p.Arg1300Gly
- NP_001394626.1:p.Arg1300Gly
- NP_001394627.1:p.Arg1300Gly
- NP_001394653.1:p.Arg1300Gly
- NP_001394654.1:p.Arg1300Gly
- NP_001394655.1:p.Arg1300Gly
- NP_001394656.1:p.Arg1300Gly
- NP_001394657.1:p.Arg1300Gly
- NP_001394658.1:p.Arg1300Gly
- NP_001394659.1:p.Arg1300Gly
- NP_001394660.1:p.Arg1300Gly
- NP_001394661.1:p.Arg1300Gly
- NP_001394662.1:p.Arg1300Gly
- NP_001394663.1:p.Arg1300Gly
- NP_001394664.1:p.Arg1300Gly
- NP_001394665.1:p.Arg1300Gly
- NP_001394666.1:p.Arg1300Gly
- NP_001394667.1:p.Arg1300Gly
- NP_001394668.1:p.Arg1300Gly
- NP_001394669.1:p.Arg1299Gly
- NP_001394670.1:p.Arg1299Gly
- NP_001394671.1:p.Arg1299Gly
- NP_001394672.1:p.Arg1299Gly
- NP_001394673.1:p.Arg1299Gly
- NP_001394674.1:p.Arg1299Gly
- NP_001394675.1:p.Arg1299Gly
- NP_001394676.1:p.Arg1299Gly
- NP_001394677.1:p.Arg1299Gly
- NP_001394678.1:p.Arg1299Gly
- NP_001394679.1:p.Arg1300Gly
- NP_001394680.1:p.Arg1300Gly
- NP_001394681.1:p.Arg1300Gly
- NP_001394767.1:p.Arg1299Gly
- NP_001394768.1:p.Arg1299Gly
- NP_001394770.1:p.Arg1299Gly
- NP_001394771.1:p.Arg1299Gly
- NP_001394772.1:p.Arg1299Gly
- NP_001394773.1:p.Arg1299Gly
- NP_001394774.1:p.Arg1299Gly
- NP_001394775.1:p.Arg1299Gly
- NP_001394776.1:p.Arg1299Gly
- NP_001394777.1:p.Arg1299Gly
- NP_001394778.1:p.Arg1299Gly
- NP_001394779.1:p.Arg1300Gly
- NP_001394780.1:p.Arg1300Gly
- NP_001394781.1:p.Arg1300Gly
- NP_001394782.1:p.Arg1276Gly
- NP_001394783.1:p.Arg1347Gly
- NP_001394787.1:p.Arg1347Gly
- NP_001394788.1:p.Arg1347Gly
- NP_001394789.1:p.Arg1346Gly
- NP_001394790.1:p.Arg1346Gly
- NP_001394791.1:p.Arg1280Gly
- NP_001394792.1:p.Arg1306Gly
- NP_001394803.1:p.Arg1279Gly
- NP_001394804.1:p.Arg1279Gly
- NP_001394808.1:p.Arg1277Gly
- NP_001394810.1:p.Arg1277Gly
- NP_001394811.1:p.Arg1277Gly
- NP_001394813.1:p.Arg1277Gly
- NP_001394814.1:p.Arg1277Gly
- NP_001394815.1:p.Arg1277Gly
- NP_001394816.1:p.Arg1277Gly
- NP_001394818.1:p.Arg1277Gly
- NP_001394823.1:p.Arg1276Gly
- NP_001394824.1:p.Arg1276Gly
- NP_001394825.1:p.Arg1276Gly
- NP_001394826.1:p.Arg1276Gly
- NP_001394827.1:p.Arg1276Gly
- NP_001394828.1:p.Arg1276Gly
- NP_001394829.1:p.Arg1277Gly
- NP_001394831.1:p.Arg1277Gly
- NP_001394833.1:p.Arg1277Gly
- NP_001394835.1:p.Arg1277Gly
- NP_001394836.1:p.Arg1277Gly
- NP_001394837.1:p.Arg1277Gly
- NP_001394838.1:p.Arg1277Gly
- NP_001394839.1:p.Arg1277Gly
- NP_001394844.1:p.Arg1276Gly
- NP_001394845.1:p.Arg1276Gly
- NP_001394846.1:p.Arg1276Gly
- NP_001394847.1:p.Arg1276Gly
- NP_001394848.1:p.Arg1306Gly
- NP_001394849.1:p.Arg1259Gly
- NP_001394850.1:p.Arg1259Gly
- NP_001394851.1:p.Arg1259Gly
- NP_001394852.1:p.Arg1259Gly
- NP_001394853.1:p.Arg1259Gly
- NP_001394854.1:p.Arg1259Gly
- NP_001394855.1:p.Arg1259Gly
- NP_001394856.1:p.Arg1259Gly
- NP_001394857.1:p.Arg1259Gly
- NP_001394858.1:p.Arg1259Gly
- NP_001394859.1:p.Arg1258Gly
- NP_001394860.1:p.Arg1258Gly
- NP_001394861.1:p.Arg1258Gly
- NP_001394862.1:p.Arg1259Gly
- NP_001394863.1:p.Arg1258Gly
- NP_001394864.1:p.Arg1259Gly
- NP_001394865.1:p.Arg1258Gly
- NP_001394866.1:p.Arg1306Gly
- NP_001394867.1:p.Arg1306Gly
- NP_001394868.1:p.Arg1306Gly
- NP_001394869.1:p.Arg1305Gly
- NP_001394870.1:p.Arg1305Gly
- NP_001394871.1:p.Arg1300Gly
- NP_001394872.1:p.Arg1299Gly
- NP_001394873.1:p.Arg1300Gly
- NP_001394874.1:p.Arg1300Gly
- NP_001394875.1:p.Arg1236Gly
- NP_001394876.1:p.Arg1236Gly
- NP_001394877.1:p.Arg1236Gly
- NP_001394878.1:p.Arg1236Gly
- NP_001394879.1:p.Arg1236Gly
- NP_001394880.1:p.Arg1236Gly
- NP_001394881.1:p.Arg1236Gly
- NP_001394882.1:p.Arg1236Gly
- NP_001394883.1:p.Arg1235Gly
- NP_001394884.1:p.Arg1235Gly
- NP_001394885.1:p.Arg1235Gly
- NP_001394886.1:p.Arg1236Gly
- NP_001394887.1:p.Arg1235Gly
- NP_001394888.1:p.Arg1220Gly
- NP_001394889.1:p.Arg1220Gly
- NP_001394891.1:p.Arg1219Gly
- NP_001394892.1:p.Arg1220Gly
- NP_001394893.1:p.Arg1299Gly
- NP_001394894.1:p.Arg1179Gly
- NP_001394895.1:p.Arg1051Gly
- NP_001394896.1:p.Arg1051Gly
- NP_001394897.1:p.Arg479Gly
- NP_001394898.1:p.Arg479Gly
- NP_009225.1:p.Arg1347Gly
- NP_009225.1:p.Arg1347Gly
- NP_009228.2:p.Arg1300Gly
- NP_009231.2:p.Arg1347Gly
- LRG_292t1:c.4039A>G
- LRG_292:g.126492A>G
- LRG_292p1:p.Arg1347Gly
- NC_000017.10:g.41243509T>C
- NM_007294.2:c.4039A>G
- NM_007294.3:c.4039A>G
- NM_007294.4:c.4039A>G
- NM_007299.3:c.788-460A>G
- NM_007300.3:c.4039A>G
- NR_027676.1:n.4175A>G
- P38398:p.Arg1347Gly
- U14680.1:n.4158A>G
- p.R1347G
This HGVS expression did not pass validation- Nucleotide change:
- 4158A>G
- Protein change:
- R1051G
- Links:
- BRCA1-HCI: BRCA1_00011; UniProtKB: P38398#VAR_007785; dbSNP: rs28897689
- NCBI 1000 Genomes Browser:
- rs28897689
- Molecular consequence:
- NM_001407970.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-469A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-460A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.4030A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.4030A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3961A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3961A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3961A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3961A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3961A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3961A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3958A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3958A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3958A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3958A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3961A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.4036A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.3838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.3835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.3835A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.3826A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.3772A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.3772A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.3772A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.3772A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.3775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.3772A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.3916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.3913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.3703A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.3703A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.3703A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.3703A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.3658A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.3658A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.3655A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.3658A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.3895A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.3535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.3151A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.3151A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.3898A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.4039A>G - missense variant - [Sequence Ontology: SO:0001583]
- Observations:
- 1
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000084432 | ITMI | no classification provided | not provided | germline | reference population | |
SCV000167299 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification (06012015)) | Benign (Oct 10, 2014) | germline | clinical testing | |
SCV000202265 | Eurofins Ntd Llc (ga) | criteria provided, single submitter (EGL Classification Definitions 2015) | Benign (May 1, 2014) | germline | clinical testing | |
SCV000538435 | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | criteria provided, single submitter (LMM Criteria) | Likely benign (Mar 29, 2016) | germline | clinical testing | |
SCV000586896 | Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR) | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Apr 18, 2017) | germline | clinical testing | |
SCV000587368 | Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR) | no assertion criteria provided | Benign (Jan 31, 2014) | germline | research | |
SCV000588052 | Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR) | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Apr 20, 2017) | germline | clinical testing | |
SCV000591481 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Benign | unknown | clinical testing | |
SCV000593660 | Genetic Services Laboratory, University of Chicago | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Feb 8, 2019) | germline | clinical testing | |
SCV000806942 | PreventionGenetics, part of Exact Sciences | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Feb 20, 2017) | germline | clinical testing | |
SCV000864299 | Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Jun 12, 2017) | germline | clinical testing | |
SCV001800181 | Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus | no assertion criteria provided | Benign | germline | clinical testing | |
SCV001906230 | Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus
| no assertion criteria provided | Benign | germline | clinical testing | |
SCV001956103 | Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus
| no assertion criteria provided | Benign | germline | clinical testing | |
SCV002550983 | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Feb 6, 2024) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing, research |
not provided | germline | unknown | 1 | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | no | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
African | germline | unknown | not provided | not provided | not provided | 43 | not provided | reference population |
African_European | germline | unknown | not provided | not provided | not provided | 46 | not provided | reference population |
Central_Asian | germline | unknown | not provided | not provided | not provided | 50 | not provided | reference population |
East_Asian | germline | unknown | not provided | not provided | not provided | 62 | not provided | reference population |
European | germline | unknown | not provided | not provided | not provided | 331 | not provided | reference population |
Hispanic | germline | unknown | not provided | not provided | not provided | 118 | not provided | reference population |
Whole_cohort | germline | unknown | not provided | not provided | not provided | 681 | not provided | reference population |
Citations
PubMed
Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.
PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.
- PMID:
- 24728327
- PMCID:
- PMC3984285
A systematic approach to assessing the clinical significance of genetic variants.
Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.
Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.
- PMID:
- 24033266
- PMCID:
- PMC3995020
Details of each submission
From ITMI, SCV000084432.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | African | not provided | not provided | not provided | reference population | PubMed (1) |
2 | African_European | not provided | not provided | not provided | reference population | PubMed (1) |
3 | Central_Asian | not provided | not provided | not provided | reference population | PubMed (1) |
4 | East_Asian | not provided | not provided | not provided | reference population | PubMed (1) |
5 | European | not provided | not provided | not provided | reference population | PubMed (1) |
6 | Hispanic | not provided | not provided | not provided | reference population | PubMed (1) |
7 | Whole_cohort | not provided | not provided | not provided | reference population | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | 43 | not provided | discovery | not provided | 0 | not provided | not provided | |
2 | germline | unknown | 46 | not provided | discovery | not provided | 0 | not provided | not provided | |
3 | germline | unknown | 50 | not provided | discovery | not provided | 0 | not provided | not provided | |
4 | germline | unknown | 62 | not provided | discovery | not provided | 0 | not provided | not provided | |
5 | germline | unknown | 331 | not provided | discovery | not provided | 0.0091 | not provided | not provided | |
6 | germline | unknown | 118 | not provided | discovery | not provided | 0.0085 | not provided | not provided | |
7 | germline | unknown | 681 | not provided | discovery | not provided | 0.0059 | not provided | not provided |
From GeneDx, SCV000167299.11
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Eurofins Ntd Llc (ga), SCV000202265.7
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000538435.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.6% (430/66720) European chromosomes, 2 homozygotes; ClinVar: 8 labs classify as B/LB
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR), SCV000586896.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587368.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | research | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR), SCV000588052.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591481.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.Arg1347Gly variant is not expected to have clinical significance because it has been reported 44 times (in heterozygozous or homozygous form) with co-occurrence in individuals with known deleterious mutation in the BRCA1 gene (Tavtigian_2006_16014699). This variant is also reported in dbSNP (rs28897689) with an average heterozygosity of 0.010+/-0.068. Pathogenic variants have been reported as co-occuring with this variant: BRCA1 (1) c.5077_5080delinsTTCATTCTGC (p.Asp1692_Ala1693insPheIle) (2) c.2617dup (p.Ser873PhefsX30) (3) c.IVS5+3A>G (c.212+3A>G) AND BRCA2 (c.1420delC (p.Glu475AsnfsX10)), increasing the likelihood the p.Arg1347 variant does not have clinical significance. Based on the above information this variant is considered benign.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Genetic Services Laboratory, University of Chicago, SCV000593660.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | no | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From PreventionGenetics, part of Exact Sciences, SCV000806942.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital, SCV000864299.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
BS1,BP1,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is a missense alteration in a gene for which primarily truncating variants are known to cause disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800181.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001906230.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001956103.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002550983.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Mar 23, 2024