NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Sep 5, 2022
- 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:
- RCV000779909.13
Allele description [Variation Report for NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)]
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)
- Other names:
- Q1395Q
- HGVS:
- NC_000017.11:g.43090944C>T
- NG_005905.2:g.127040G>A
- NM_001407571.1:c.3972G>A
- NM_001407581.1:c.4185G>A
- NM_001407582.1:c.4185G>A
- NM_001407583.1:c.4185G>A
- NM_001407585.1:c.4185G>A
- NM_001407587.1:c.4182G>A
- NM_001407590.1:c.4182G>A
- NM_001407591.1:c.4182G>A
- NM_001407593.1:c.4185G>A
- NM_001407594.1:c.4185G>A
- NM_001407596.1:c.4185G>A
- NM_001407597.1:c.4185G>A
- NM_001407598.1:c.4185G>A
- NM_001407602.1:c.4185G>A
- NM_001407603.1:c.4185G>A
- NM_001407605.1:c.4185G>A
- NM_001407610.1:c.4182G>A
- NM_001407611.1:c.4182G>A
- NM_001407612.1:c.4182G>A
- NM_001407613.1:c.4182G>A
- NM_001407614.1:c.4182G>A
- NM_001407615.1:c.4182G>A
- NM_001407616.1:c.4185G>A
- NM_001407617.1:c.4185G>A
- NM_001407618.1:c.4185G>A
- NM_001407619.1:c.4185G>A
- NM_001407620.1:c.4185G>A
- NM_001407621.1:c.4185G>A
- NM_001407622.1:c.4185G>A
- NM_001407623.1:c.4185G>A
- NM_001407624.1:c.4185G>A
- NM_001407625.1:c.4185G>A
- NM_001407626.1:c.4185G>A
- NM_001407627.1:c.4182G>A
- NM_001407628.1:c.4182G>A
- NM_001407629.1:c.4182G>A
- NM_001407630.1:c.4182G>A
- NM_001407631.1:c.4182G>A
- NM_001407632.1:c.4182G>A
- NM_001407633.1:c.4182G>A
- NM_001407634.1:c.4182G>A
- NM_001407635.1:c.4182G>A
- NM_001407636.1:c.4182G>A
- NM_001407637.1:c.4182G>A
- NM_001407638.1:c.4182G>A
- NM_001407639.1:c.4185G>A
- NM_001407640.1:c.4185G>A
- NM_001407641.1:c.4185G>A
- NM_001407642.1:c.4185G>A
- NM_001407644.1:c.4182G>A
- NM_001407645.1:c.4182G>A
- NM_001407646.1:c.4176G>A
- NM_001407647.1:c.4176G>A
- NM_001407648.1:c.4062G>A
- NM_001407649.1:c.4059G>A
- NM_001407652.1:c.4185G>A
- NM_001407653.1:c.4107G>A
- NM_001407654.1:c.4107G>A
- NM_001407655.1:c.4107G>A
- NM_001407656.1:c.4107G>A
- NM_001407657.1:c.4107G>A
- NM_001407658.1:c.4107G>A
- NM_001407659.1:c.4104G>A
- NM_001407660.1:c.4104G>A
- NM_001407661.1:c.4104G>A
- NM_001407662.1:c.4104G>A
- NM_001407663.1:c.4107G>A
- NM_001407664.1:c.4062G>A
- NM_001407665.1:c.4062G>A
- NM_001407666.1:c.4062G>A
- NM_001407667.1:c.4062G>A
- NM_001407668.1:c.4062G>A
- NM_001407669.1:c.4062G>A
- NM_001407670.1:c.4059G>A
- NM_001407671.1:c.4059G>A
- NM_001407672.1:c.4059G>A
- NM_001407673.1:c.4059G>A
- NM_001407674.1:c.4062G>A
- NM_001407675.1:c.4062G>A
- NM_001407676.1:c.4062G>A
- NM_001407677.1:c.4062G>A
- NM_001407678.1:c.4062G>A
- NM_001407679.1:c.4062G>A
- NM_001407680.1:c.4062G>A
- NM_001407681.1:c.4062G>A
- NM_001407682.1:c.4062G>A
- NM_001407683.1:c.4062G>A
- NM_001407684.1:c.4185G>A
- NM_001407685.1:c.4059G>A
- NM_001407686.1:c.4059G>A
- NM_001407687.1:c.4059G>A
- NM_001407688.1:c.4059G>A
- NM_001407689.1:c.4059G>A
- NM_001407690.1:c.4059G>A
- NM_001407691.1:c.4059G>A
- NM_001407692.1:c.4044G>A
- NM_001407694.1:c.4044G>A
- NM_001407695.1:c.4044G>A
- NM_001407696.1:c.4044G>A
- NM_001407697.1:c.4044G>A
- NM_001407698.1:c.4044G>A
- NM_001407724.1:c.4044G>A
- NM_001407725.1:c.4044G>A
- NM_001407726.1:c.4044G>A
- NM_001407727.1:c.4044G>A
- NM_001407728.1:c.4044G>A
- NM_001407729.1:c.4044G>A
- NM_001407730.1:c.4044G>A
- NM_001407731.1:c.4044G>A
- NM_001407732.1:c.4044G>A
- NM_001407733.1:c.4044G>A
- NM_001407734.1:c.4044G>A
- NM_001407735.1:c.4044G>A
- NM_001407736.1:c.4044G>A
- NM_001407737.1:c.4044G>A
- NM_001407738.1:c.4044G>A
- NM_001407739.1:c.4044G>A
- NM_001407740.1:c.4041G>A
- NM_001407741.1:c.4041G>A
- NM_001407742.1:c.4041G>A
- NM_001407743.1:c.4041G>A
- NM_001407744.1:c.4041G>A
- NM_001407745.1:c.4041G>A
- NM_001407746.1:c.4041G>A
- NM_001407747.1:c.4041G>A
- NM_001407748.1:c.4041G>A
- NM_001407749.1:c.4041G>A
- NM_001407750.1:c.4044G>A
- NM_001407751.1:c.4044G>A
- NM_001407752.1:c.4044G>A
- NM_001407838.1:c.4041G>A
- NM_001407839.1:c.4041G>A
- NM_001407841.1:c.4041G>A
- NM_001407842.1:c.4041G>A
- NM_001407843.1:c.4041G>A
- NM_001407844.1:c.4041G>A
- NM_001407845.1:c.4041G>A
- NM_001407846.1:c.4041G>A
- NM_001407847.1:c.4041G>A
- NM_001407848.1:c.4041G>A
- NM_001407849.1:c.4041G>A
- NM_001407850.1:c.4044G>A
- NM_001407851.1:c.4044G>A
- NM_001407852.1:c.4044G>A
- NM_001407853.1:c.3972G>A
- NM_001407854.1:c.4185G>A
- NM_001407858.1:c.4185G>A
- NM_001407859.1:c.4185G>A
- NM_001407860.1:c.4182G>A
- NM_001407861.1:c.4182G>A
- NM_001407862.1:c.3984G>A
- NM_001407863.1:c.4062G>A
- NM_001407874.1:c.3981G>A
- NM_001407875.1:c.3981G>A
- NM_001407879.1:c.3975G>A
- NM_001407881.1:c.3975G>A
- NM_001407882.1:c.3975G>A
- NM_001407884.1:c.3975G>A
- NM_001407885.1:c.3975G>A
- NM_001407886.1:c.3975G>A
- NM_001407887.1:c.3975G>A
- NM_001407889.1:c.3975G>A
- NM_001407894.1:c.3972G>A
- NM_001407895.1:c.3972G>A
- NM_001407896.1:c.3972G>A
- NM_001407897.1:c.3972G>A
- NM_001407898.1:c.3972G>A
- NM_001407899.1:c.3972G>A
- NM_001407900.1:c.3975G>A
- NM_001407902.1:c.3975G>A
- NM_001407904.1:c.3975G>A
- NM_001407906.1:c.3975G>A
- NM_001407907.1:c.3975G>A
- NM_001407908.1:c.3975G>A
- NM_001407909.1:c.3975G>A
- NM_001407910.1:c.3975G>A
- NM_001407915.1:c.3972G>A
- NM_001407916.1:c.3972G>A
- NM_001407917.1:c.3972G>A
- NM_001407918.1:c.3972G>A
- NM_001407919.1:c.4062G>A
- NM_001407920.1:c.3921G>A
- NM_001407921.1:c.3921G>A
- NM_001407922.1:c.3921G>A
- NM_001407923.1:c.3921G>A
- NM_001407924.1:c.3921G>A
- NM_001407925.1:c.3921G>A
- NM_001407926.1:c.3921G>A
- NM_001407927.1:c.3921G>A
- NM_001407928.1:c.3921G>A
- NM_001407929.1:c.3921G>A
- NM_001407930.1:c.3918G>A
- NM_001407931.1:c.3918G>A
- NM_001407932.1:c.3918G>A
- NM_001407933.1:c.3921G>A
- NM_001407934.1:c.3918G>A
- NM_001407935.1:c.3921G>A
- NM_001407936.1:c.3918G>A
- NM_001407937.1:c.4062G>A
- NM_001407938.1:c.4062G>A
- NM_001407939.1:c.4062G>A
- NM_001407940.1:c.4059G>A
- NM_001407941.1:c.4059G>A
- NM_001407942.1:c.4044G>A
- NM_001407943.1:c.4041G>A
- NM_001407944.1:c.4044G>A
- NM_001407945.1:c.4044G>A
- NM_001407946.1:c.3852G>A
- NM_001407947.1:c.3852G>A
- NM_001407948.1:c.3852G>A
- NM_001407949.1:c.3852G>A
- NM_001407950.1:c.3852G>A
- NM_001407951.1:c.3852G>A
- NM_001407952.1:c.3852G>A
- NM_001407953.1:c.3852G>A
- NM_001407954.1:c.3849G>A
- NM_001407955.1:c.3849G>A
- NM_001407956.1:c.3849G>A
- NM_001407957.1:c.3852G>A
- NM_001407958.1:c.3849G>A
- NM_001407959.1:c.3804G>A
- NM_001407960.1:c.3804G>A
- NM_001407962.1:c.3801G>A
- NM_001407963.1:c.3804G>A
- NM_001407964.1:c.4041G>A
- NM_001407965.1:c.3681G>A
- NM_001407966.1:c.3297G>A
- NM_001407967.1:c.3297G>A
- NM_001407968.1:c.1581G>A
- NM_001407969.1:c.1581G>A
- NM_001407970.1:c.876G>A
- NM_001407971.1:c.876G>A
- NM_001407972.1:c.873G>A
- NM_001407973.1:c.876G>A
- NM_001407974.1:c.876G>A
- NM_001407975.1:c.876G>A
- NM_001407976.1:c.876G>A
- NM_001407977.1:c.876G>A
- NM_001407978.1:c.876G>A
- NM_001407979.1:c.876G>A
- NM_001407980.1:c.876G>A
- NM_001407981.1:c.876G>A
- NM_001407982.1:c.876G>A
- NM_001407983.1:c.876G>A
- NM_001407984.1:c.873G>A
- NM_001407985.1:c.873G>A
- NM_001407986.1:c.873G>A
- NM_001407990.1:c.876G>A
- NM_001407991.1:c.873G>A
- NM_001407992.1:c.873G>A
- NM_001407993.1:c.876G>A
- NM_001408392.1:c.873G>A
- NM_001408396.1:c.873G>A
- NM_001408397.1:c.873G>A
- NM_001408398.1:c.873G>A
- NM_001408399.1:c.873G>A
- NM_001408400.1:c.873G>A
- NM_001408401.1:c.873G>A
- NM_001408402.1:c.873G>A
- NM_001408403.1:c.876G>A
- NM_001408404.1:c.876G>A
- NM_001408406.1:c.870G>A
- NM_001408407.1:c.873G>A
- NM_001408408.1:c.867G>A
- NM_001408409.1:c.798G>A
- NM_001408410.1:c.735G>A
- NM_001408411.1:c.798G>A
- NM_001408412.1:c.798G>A
- NM_001408413.1:c.795G>A
- NM_001408414.1:c.798G>A
- NM_001408415.1:c.798G>A
- NM_001408416.1:c.795G>A
- NM_001408418.1:c.759G>A
- NM_001408419.1:c.759G>A
- NM_001408420.1:c.759G>A
- NM_001408421.1:c.756G>A
- NM_001408422.1:c.759G>A
- NM_001408423.1:c.759G>A
- NM_001408424.1:c.756G>A
- NM_001408425.1:c.753G>A
- NM_001408426.1:c.753G>A
- NM_001408427.1:c.753G>A
- NM_001408428.1:c.753G>A
- NM_001408429.1:c.753G>A
- NM_001408430.1:c.753G>A
- NM_001408431.1:c.756G>A
- NM_001408432.1:c.750G>A
- NM_001408433.1:c.750G>A
- NM_001408434.1:c.750G>A
- NM_001408435.1:c.750G>A
- NM_001408436.1:c.753G>A
- NM_001408437.1:c.753G>A
- NM_001408438.1:c.753G>A
- NM_001408439.1:c.753G>A
- NM_001408440.1:c.753G>A
- NM_001408441.1:c.753G>A
- NM_001408442.1:c.753G>A
- NM_001408443.1:c.753G>A
- NM_001408444.1:c.753G>A
- NM_001408445.1:c.750G>A
- NM_001408446.1:c.750G>A
- NM_001408447.1:c.750G>A
- NM_001408448.1:c.750G>A
- NM_001408450.1:c.750G>A
- NM_001408451.1:c.741G>A
- NM_001408452.1:c.735G>A
- NM_001408453.1:c.735G>A
- NM_001408454.1:c.735G>A
- NM_001408455.1:c.735G>A
- NM_001408456.1:c.735G>A
- NM_001408457.1:c.735G>A
- NM_001408458.1:c.735G>A
- NM_001408459.1:c.735G>A
- NM_001408460.1:c.735G>A
- NM_001408461.1:c.735G>A
- NM_001408462.1:c.732G>A
- NM_001408463.1:c.732G>A
- NM_001408464.1:c.732G>A
- NM_001408465.1:c.732G>A
- NM_001408466.1:c.735G>A
- NM_001408467.1:c.735G>A
- NM_001408468.1:c.732G>A
- NM_001408469.1:c.735G>A
- NM_001408470.1:c.732G>A
- NM_001408472.1:c.876G>A
- NM_001408473.1:c.873G>A
- NM_001408474.1:c.675G>A
- NM_001408475.1:c.672G>A
- NM_001408476.1:c.675G>A
- NM_001408478.1:c.666G>A
- NM_001408479.1:c.666G>A
- NM_001408480.1:c.666G>A
- NM_001408481.1:c.666G>A
- NM_001408482.1:c.666G>A
- NM_001408483.1:c.666G>A
- NM_001408484.1:c.666G>A
- NM_001408485.1:c.666G>A
- NM_001408489.1:c.666G>A
- NM_001408490.1:c.663G>A
- NM_001408491.1:c.663G>A
- NM_001408492.1:c.666G>A
- NM_001408493.1:c.663G>A
- NM_001408494.1:c.636G>A
- NM_001408495.1:c.633G>A
- NM_001408496.1:c.612G>A
- NM_001408497.1:c.612G>A
- NM_001408498.1:c.612G>A
- NM_001408499.1:c.612G>A
- NM_001408500.1:c.612G>A
- NM_001408501.1:c.612G>A
- NM_001408502.1:c.543G>A
- NM_001408503.1:c.609G>A
- NM_001408504.1:c.609G>A
- NM_001408505.1:c.609G>A
- NM_001408506.1:c.549G>A
- NM_001408507.1:c.549G>A
- NM_001408508.1:c.540G>A
- NM_001408509.1:c.540G>A
- NM_001408510.1:c.495G>A
- NM_001408511.1:c.492G>A
- NM_001408512.1:c.372G>A
- NM_001408513.1:c.666G>A
- NM_001408514.1:c.666G>A
- NM_007294.4:c.4185G>AMANE SELECT
- NM_007297.4:c.4044G>A
- NM_007298.4:c.876G>A
- NM_007299.4:c.876G>A
- NM_007300.4:c.4185G>A
- NM_007304.2:c.876G>A
- NP_001394500.1:p.Gln1324=
- NP_001394510.1:p.Gln1395=
- NP_001394511.1:p.Gln1395=
- NP_001394512.1:p.Gln1395=
- NP_001394514.1:p.Gln1395=
- NP_001394516.1:p.Gln1394=
- NP_001394519.1:p.Gln1394=
- NP_001394520.1:p.Gln1394=
- NP_001394522.1:p.Gln1395=
- NP_001394523.1:p.Gln1395=
- NP_001394525.1:p.Gln1395=
- NP_001394526.1:p.Gln1395=
- NP_001394527.1:p.Gln1395=
- NP_001394531.1:p.Gln1395=
- NP_001394532.1:p.Gln1395=
- NP_001394534.1:p.Gln1395=
- NP_001394539.1:p.Gln1394=
- NP_001394540.1:p.Gln1394=
- NP_001394541.1:p.Gln1394=
- NP_001394542.1:p.Gln1394=
- NP_001394543.1:p.Gln1394=
- NP_001394544.1:p.Gln1394=
- NP_001394545.1:p.Gln1395=
- NP_001394546.1:p.Gln1395=
- NP_001394547.1:p.Gln1395=
- NP_001394548.1:p.Gln1395=
- NP_001394549.1:p.Gln1395=
- NP_001394550.1:p.Gln1395=
- NP_001394551.1:p.Gln1395=
- NP_001394552.1:p.Gln1395=
- NP_001394553.1:p.Gln1395=
- NP_001394554.1:p.Gln1395=
- NP_001394555.1:p.Gln1395=
- NP_001394556.1:p.Gln1394=
- NP_001394557.1:p.Gln1394=
- NP_001394558.1:p.Gln1394=
- NP_001394559.1:p.Gln1394=
- NP_001394560.1:p.Gln1394=
- NP_001394561.1:p.Gln1394=
- NP_001394562.1:p.Gln1394=
- NP_001394563.1:p.Gln1394=
- NP_001394564.1:p.Gln1394=
- NP_001394565.1:p.Gln1394=
- NP_001394566.1:p.Gln1394=
- NP_001394567.1:p.Gln1394=
- NP_001394568.1:p.Gln1395=
- NP_001394569.1:p.Gln1395=
- NP_001394570.1:p.Gln1395=
- NP_001394571.1:p.Gln1395=
- NP_001394573.1:p.Gln1394=
- NP_001394574.1:p.Gln1394=
- NP_001394575.1:p.Gln1392=
- NP_001394576.1:p.Gln1392=
- NP_001394577.1:p.Gln1354=
- NP_001394578.1:p.Gln1353=
- NP_001394581.1:p.Gln1395=
- NP_001394582.1:p.Gln1369=
- NP_001394583.1:p.Gln1369=
- NP_001394584.1:p.Gln1369=
- NP_001394585.1:p.Gln1369=
- NP_001394586.1:p.Gln1369=
- NP_001394587.1:p.Gln1369=
- NP_001394588.1:p.Gln1368=
- NP_001394589.1:p.Gln1368=
- NP_001394590.1:p.Gln1368=
- NP_001394591.1:p.Gln1368=
- NP_001394592.1:p.Gln1369=
- NP_001394593.1:p.Gln1354=
- NP_001394594.1:p.Gln1354=
- NP_001394595.1:p.Gln1354=
- NP_001394596.1:p.Gln1354=
- NP_001394597.1:p.Gln1354=
- NP_001394598.1:p.Gln1354=
- NP_001394599.1:p.Gln1353=
- NP_001394600.1:p.Gln1353=
- NP_001394601.1:p.Gln1353=
- NP_001394602.1:p.Gln1353=
- NP_001394603.1:p.Gln1354=
- NP_001394604.1:p.Gln1354=
- NP_001394605.1:p.Gln1354=
- NP_001394606.1:p.Gln1354=
- NP_001394607.1:p.Gln1354=
- NP_001394608.1:p.Gln1354=
- NP_001394609.1:p.Gln1354=
- NP_001394610.1:p.Gln1354=
- NP_001394611.1:p.Gln1354=
- NP_001394612.1:p.Gln1354=
- NP_001394613.1:p.Gln1395=
- NP_001394614.1:p.Gln1353=
- NP_001394615.1:p.Gln1353=
- NP_001394616.1:p.Gln1353=
- NP_001394617.1:p.Gln1353=
- NP_001394618.1:p.Gln1353=
- NP_001394619.1:p.Gln1353=
- NP_001394620.1:p.Gln1353=
- NP_001394621.1:p.Gln1348=
- NP_001394623.1:p.Gln1348=
- NP_001394624.1:p.Gln1348=
- NP_001394625.1:p.Gln1348=
- NP_001394626.1:p.Gln1348=
- NP_001394627.1:p.Gln1348=
- NP_001394653.1:p.Gln1348=
- NP_001394654.1:p.Gln1348=
- NP_001394655.1:p.Gln1348=
- NP_001394656.1:p.Gln1348=
- NP_001394657.1:p.Gln1348=
- NP_001394658.1:p.Gln1348=
- NP_001394659.1:p.Gln1348=
- NP_001394660.1:p.Gln1348=
- NP_001394661.1:p.Gln1348=
- NP_001394662.1:p.Gln1348=
- NP_001394663.1:p.Gln1348=
- NP_001394664.1:p.Gln1348=
- NP_001394665.1:p.Gln1348=
- NP_001394666.1:p.Gln1348=
- NP_001394667.1:p.Gln1348=
- NP_001394668.1:p.Gln1348=
- NP_001394669.1:p.Gln1347=
- NP_001394670.1:p.Gln1347=
- NP_001394671.1:p.Gln1347=
- NP_001394672.1:p.Gln1347=
- NP_001394673.1:p.Gln1347=
- NP_001394674.1:p.Gln1347=
- NP_001394675.1:p.Gln1347=
- NP_001394676.1:p.Gln1347=
- NP_001394677.1:p.Gln1347=
- NP_001394678.1:p.Gln1347=
- NP_001394679.1:p.Gln1348=
- NP_001394680.1:p.Gln1348=
- NP_001394681.1:p.Gln1348=
- NP_001394767.1:p.Gln1347=
- NP_001394768.1:p.Gln1347=
- NP_001394770.1:p.Gln1347=
- NP_001394771.1:p.Gln1347=
- NP_001394772.1:p.Gln1347=
- NP_001394773.1:p.Gln1347=
- NP_001394774.1:p.Gln1347=
- NP_001394775.1:p.Gln1347=
- NP_001394776.1:p.Gln1347=
- NP_001394777.1:p.Gln1347=
- NP_001394778.1:p.Gln1347=
- NP_001394779.1:p.Gln1348=
- NP_001394780.1:p.Gln1348=
- NP_001394781.1:p.Gln1348=
- NP_001394782.1:p.Gln1324=
- NP_001394783.1:p.Gln1395=
- NP_001394787.1:p.Gln1395=
- NP_001394788.1:p.Gln1395=
- NP_001394789.1:p.Gln1394=
- NP_001394790.1:p.Gln1394=
- NP_001394791.1:p.Gln1328=
- NP_001394792.1:p.Gln1354=
- NP_001394803.1:p.Gln1327=
- NP_001394804.1:p.Gln1327=
- NP_001394808.1:p.Gln1325=
- NP_001394810.1:p.Gln1325=
- NP_001394811.1:p.Gln1325=
- NP_001394813.1:p.Gln1325=
- NP_001394814.1:p.Gln1325=
- NP_001394815.1:p.Gln1325=
- NP_001394816.1:p.Gln1325=
- NP_001394818.1:p.Gln1325=
- NP_001394823.1:p.Gln1324=
- NP_001394824.1:p.Gln1324=
- NP_001394825.1:p.Gln1324=
- NP_001394826.1:p.Gln1324=
- NP_001394827.1:p.Gln1324=
- NP_001394828.1:p.Gln1324=
- NP_001394829.1:p.Gln1325=
- NP_001394831.1:p.Gln1325=
- NP_001394833.1:p.Gln1325=
- NP_001394835.1:p.Gln1325=
- NP_001394836.1:p.Gln1325=
- NP_001394837.1:p.Gln1325=
- NP_001394838.1:p.Gln1325=
- NP_001394839.1:p.Gln1325=
- NP_001394844.1:p.Gln1324=
- NP_001394845.1:p.Gln1324=
- NP_001394846.1:p.Gln1324=
- NP_001394847.1:p.Gln1324=
- NP_001394848.1:p.Gln1354=
- NP_001394849.1:p.Gln1307=
- NP_001394850.1:p.Gln1307=
- NP_001394851.1:p.Gln1307=
- NP_001394852.1:p.Gln1307=
- NP_001394853.1:p.Gln1307=
- NP_001394854.1:p.Gln1307=
- NP_001394855.1:p.Gln1307=
- NP_001394856.1:p.Gln1307=
- NP_001394857.1:p.Gln1307=
- NP_001394858.1:p.Gln1307=
- NP_001394859.1:p.Gln1306=
- NP_001394860.1:p.Gln1306=
- NP_001394861.1:p.Gln1306=
- NP_001394862.1:p.Gln1307=
- NP_001394863.1:p.Gln1306=
- NP_001394864.1:p.Gln1307=
- NP_001394865.1:p.Gln1306=
- NP_001394866.1:p.Gln1354=
- NP_001394867.1:p.Gln1354=
- NP_001394868.1:p.Gln1354=
- NP_001394869.1:p.Gln1353=
- NP_001394870.1:p.Gln1353=
- NP_001394871.1:p.Gln1348=
- NP_001394872.1:p.Gln1347=
- NP_001394873.1:p.Gln1348=
- NP_001394874.1:p.Gln1348=
- NP_001394875.1:p.Gln1284=
- NP_001394876.1:p.Gln1284=
- NP_001394877.1:p.Gln1284=
- NP_001394878.1:p.Gln1284=
- NP_001394879.1:p.Gln1284=
- NP_001394880.1:p.Gln1284=
- NP_001394881.1:p.Gln1284=
- NP_001394882.1:p.Gln1284=
- NP_001394883.1:p.Gln1283=
- NP_001394884.1:p.Gln1283=
- NP_001394885.1:p.Gln1283=
- NP_001394886.1:p.Gln1284=
- NP_001394887.1:p.Gln1283=
- NP_001394888.1:p.Gln1268=
- NP_001394889.1:p.Gln1268=
- NP_001394891.1:p.Gln1267=
- NP_001394892.1:p.Gln1268=
- NP_001394893.1:p.Gln1347=
- NP_001394894.1:p.Gln1227=
- NP_001394895.1:p.Gln1099=
- NP_001394896.1:p.Gln1099=
- NP_001394897.1:p.Gln527=
- NP_001394898.1:p.Gln527=
- NP_001394899.1:p.Gln292=
- NP_001394900.1:p.Gln292=
- NP_001394901.1:p.Gln291=
- NP_001394902.1:p.Gln292=
- NP_001394903.1:p.Gln292=
- NP_001394904.1:p.Gln292=
- NP_001394905.1:p.Gln292=
- NP_001394906.1:p.Gln292=
- NP_001394907.1:p.Gln292=
- NP_001394908.1:p.Gln292=
- NP_001394909.1:p.Gln292=
- NP_001394910.1:p.Gln292=
- NP_001394911.1:p.Gln292=
- NP_001394912.1:p.Gln292=
- NP_001394913.1:p.Gln291=
- NP_001394914.1:p.Gln291=
- NP_001394915.1:p.Gln291=
- NP_001394919.1:p.Gln292=
- NP_001394920.1:p.Gln291=
- NP_001394921.1:p.Gln291=
- NP_001394922.1:p.Gln292=
- NP_001395321.1:p.Gln291=
- NP_001395325.1:p.Gln291=
- NP_001395326.1:p.Gln291=
- NP_001395327.1:p.Gln291=
- NP_001395328.1:p.Gln291=
- NP_001395329.1:p.Gln291=
- NP_001395330.1:p.Gln291=
- NP_001395331.1:p.Gln291=
- NP_001395332.1:p.Gln292=
- NP_001395333.1:p.Gln292=
- NP_001395335.1:p.Gln290=
- NP_001395336.1:p.Gln291=
- NP_001395337.1:p.Gln289=
- NP_001395338.1:p.Gln266=
- NP_001395339.1:p.Gln245=
- NP_001395340.1:p.Gln266=
- NP_001395341.1:p.Gln266=
- NP_001395342.1:p.Gln265=
- NP_001395343.1:p.Gln266=
- NP_001395344.1:p.Gln266=
- NP_001395345.1:p.Gln265=
- NP_001395347.1:p.Gln253=
- NP_001395348.1:p.Gln253=
- NP_001395349.1:p.Gln253=
- NP_001395350.1:p.Gln252=
- NP_001395351.1:p.Gln253=
- NP_001395352.1:p.Gln253=
- NP_001395353.1:p.Gln252=
- NP_001395354.1:p.Gln251=
- NP_001395355.1:p.Gln251=
- NP_001395356.1:p.Gln251=
- NP_001395357.1:p.Gln251=
- NP_001395358.1:p.Gln251=
- NP_001395359.1:p.Gln251=
- NP_001395360.1:p.Gln252=
- NP_001395361.1:p.Gln250=
- NP_001395362.1:p.Gln250=
- NP_001395363.1:p.Gln250=
- NP_001395364.1:p.Gln250=
- NP_001395365.1:p.Gln251=
- NP_001395366.1:p.Gln251=
- NP_001395367.1:p.Gln251=
- NP_001395368.1:p.Gln251=
- NP_001395369.1:p.Gln251=
- NP_001395370.1:p.Gln251=
- NP_001395371.1:p.Gln251=
- NP_001395372.1:p.Gln251=
- NP_001395373.1:p.Gln251=
- NP_001395374.1:p.Gln250=
- NP_001395375.1:p.Gln250=
- NP_001395376.1:p.Gln250=
- NP_001395377.1:p.Gln250=
- NP_001395379.1:p.Gln250=
- NP_001395380.1:p.Gln247=
- NP_001395381.1:p.Gln245=
- NP_001395382.1:p.Gln245=
- NP_001395383.1:p.Gln245=
- NP_001395384.1:p.Gln245=
- NP_001395385.1:p.Gln245=
- NP_001395386.1:p.Gln245=
- NP_001395387.1:p.Gln245=
- NP_001395388.1:p.Gln245=
- NP_001395389.1:p.Gln245=
- NP_001395390.1:p.Gln245=
- NP_001395391.1:p.Gln244=
- NP_001395392.1:p.Gln244=
- NP_001395393.1:p.Gln244=
- NP_001395394.1:p.Gln244=
- NP_001395395.1:p.Gln245=
- NP_001395396.1:p.Gln245=
- NP_001395397.1:p.Gln244=
- NP_001395398.1:p.Gln245=
- NP_001395399.1:p.Gln244=
- NP_001395401.1:p.Gln292=
- NP_001395402.1:p.Gln291=
- NP_001395403.1:p.Gln225=
- NP_001395404.1:p.Gln224=
- NP_001395405.1:p.Gln225=
- NP_001395407.1:p.Gln222=
- NP_001395408.1:p.Gln222=
- NP_001395409.1:p.Gln222=
- NP_001395410.1:p.Gln222=
- NP_001395411.1:p.Gln222=
- NP_001395412.1:p.Gln222=
- NP_001395413.1:p.Gln222=
- NP_001395414.1:p.Gln222=
- NP_001395418.1:p.Gln222=
- NP_001395419.1:p.Gln221=
- NP_001395420.1:p.Gln221=
- NP_001395421.1:p.Gln222=
- NP_001395422.1:p.Gln221=
- NP_001395423.1:p.Gln212=
- NP_001395424.1:p.Gln211=
- NP_001395425.1:p.Gln204=
- NP_001395426.1:p.Gln204=
- NP_001395427.1:p.Gln204=
- NP_001395428.1:p.Gln204=
- NP_001395429.1:p.Gln204=
- NP_001395430.1:p.Gln204=
- NP_001395431.1:p.Gln181=
- NP_001395432.1:p.Gln203=
- NP_001395433.1:p.Gln203=
- NP_001395434.1:p.Gln203=
- NP_001395435.1:p.Gln183=
- NP_001395436.1:p.Gln183=
- NP_001395437.1:p.Gln180=
- NP_001395438.1:p.Gln180=
- NP_001395439.1:p.Gln165=
- NP_001395440.1:p.Gln164=
- NP_001395441.1:p.Gln124=
- NP_001395442.1:p.Gln222=
- NP_001395443.1:p.Gln222=
- NP_009225.1:p.Gln1395=
- NP_009225.1:p.Gln1395=
- NP_009228.2:p.Gln1348=
- NP_009229.2:p.Gln292=
- NP_009230.2:p.Gln292=
- NP_009231.2:p.Gln1395=
- NP_009235.2:p.Gln292=
- LRG_292t1:c.4185G>A
- LRG_292:g.127040G>A
- LRG_292p1:p.Gln1395=
- NC_000017.10:g.41242961C>T
- NM_007294.3:c.4185G>A
- NR_027676.2:n.4362G>A
- U14680.1:n.4304G>A
- p.Gln1395Gln
This HGVS expression did not pass validation- Links:
- dbSNP: rs80356857
- NCBI 1000 Genomes Browser:
- rs80356857
- Molecular consequence:
- NM_001407571.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407581.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407582.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407583.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407585.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407587.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407590.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407591.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407593.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407594.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407596.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407597.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407598.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407602.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407603.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407605.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407610.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407611.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407612.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407613.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407614.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407615.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407616.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407617.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407618.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407619.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407620.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407621.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407622.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407623.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407624.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407625.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407626.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407627.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407628.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407629.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407630.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407631.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407632.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407633.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407634.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407635.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407636.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407637.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407638.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407639.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407640.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407641.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407642.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407644.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407645.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407646.1:c.4176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407647.1:c.4176G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407648.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407649.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407652.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407653.1:c.4107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407654.1:c.4107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407655.1:c.4107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407656.1:c.4107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407657.1:c.4107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407658.1:c.4107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407659.1:c.4104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407660.1:c.4104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407661.1:c.4104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407662.1:c.4104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407663.1:c.4107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407664.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407665.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407666.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407667.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407668.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407669.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407670.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407671.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407672.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407673.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407674.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407675.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407676.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407677.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407678.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407679.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407680.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407681.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407682.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407683.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407684.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407685.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407686.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407687.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407688.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407689.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407690.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407691.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407692.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407694.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407695.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407696.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407697.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407698.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407724.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407725.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407726.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407727.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407728.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407729.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407730.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407731.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407732.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407733.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407734.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407735.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407736.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407737.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407738.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407739.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407740.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407741.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407742.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407743.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407744.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407745.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407746.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407747.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407748.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407749.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407750.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407751.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407752.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407838.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407839.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407841.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407842.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407843.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407844.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407845.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407846.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407847.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407848.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407849.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407850.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407851.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407852.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407853.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407854.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407858.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407859.1:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407860.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407861.1:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407862.1:c.3984G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407863.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407874.1:c.3981G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407875.1:c.3981G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407879.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407881.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407882.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407884.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407885.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407886.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407887.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407889.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407894.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407895.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407896.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407897.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407898.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407899.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407900.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407902.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407904.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407906.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407907.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407908.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407909.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407910.1:c.3975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407915.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407916.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407917.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407918.1:c.3972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407919.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407920.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407921.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407922.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407923.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407924.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407925.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407926.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407927.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407928.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407929.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407930.1:c.3918G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407931.1:c.3918G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407932.1:c.3918G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407933.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407934.1:c.3918G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407935.1:c.3921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407936.1:c.3918G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407937.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407938.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407939.1:c.4062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407940.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407941.1:c.4059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407942.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407943.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407944.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407945.1:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407946.1:c.3852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407947.1:c.3852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407948.1:c.3852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407949.1:c.3852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407950.1:c.3852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407951.1:c.3852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407952.1:c.3852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407953.1:c.3852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407954.1:c.3849G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407955.1:c.3849G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407956.1:c.3849G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407957.1:c.3852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407958.1:c.3849G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407959.1:c.3804G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407960.1:c.3804G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407962.1:c.3801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407963.1:c.3804G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407964.1:c.4041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407965.1:c.3681G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407966.1:c.3297G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407967.1:c.3297G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407968.1:c.1581G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407969.1:c.1581G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407970.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407971.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407972.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407973.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407974.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407975.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407976.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407977.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407978.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407979.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407980.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407981.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407982.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407983.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407984.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407985.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407986.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407990.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407991.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407992.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407993.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408392.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408396.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408397.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408398.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408399.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408400.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408401.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408402.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408403.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408404.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408406.1:c.870G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408407.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408408.1:c.867G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408409.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408410.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408411.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408412.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408413.1:c.795G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408414.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408415.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408416.1:c.795G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408418.1:c.759G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408419.1:c.759G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408420.1:c.759G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408421.1:c.756G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408422.1:c.759G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408423.1:c.759G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408424.1:c.756G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408425.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408426.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408427.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408428.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408429.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408430.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408431.1:c.756G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408432.1:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408433.1:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408434.1:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408435.1:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408436.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408437.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408438.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408439.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408440.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408441.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408442.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408443.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408444.1:c.753G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408445.1:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408446.1:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408447.1:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408448.1:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408450.1:c.750G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408451.1:c.741G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408452.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408453.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408454.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408455.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408456.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408457.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408458.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408459.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408460.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408461.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408462.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408463.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408464.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408465.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408466.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408467.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408468.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408469.1:c.735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408470.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408472.1:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408473.1:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408474.1:c.675G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408475.1:c.672G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408476.1:c.675G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408478.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408479.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408480.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408481.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408482.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408483.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408484.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408485.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408489.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408490.1:c.663G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408491.1:c.663G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408492.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408493.1:c.663G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408494.1:c.636G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408495.1:c.633G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408496.1:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408497.1:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408498.1:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408499.1:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408500.1:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408501.1:c.612G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408502.1:c.543G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408503.1:c.609G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408504.1:c.609G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408505.1:c.609G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408506.1:c.549G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408507.1:c.549G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408508.1:c.540G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408509.1:c.540G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408510.1:c.495G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408511.1:c.492G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408512.1:c.372G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408513.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408514.1:c.666G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007294.4:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007297.4:c.4044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007298.4:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007299.4:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007300.4:c.4185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007304.2:c.876G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000916819 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic (Nov 26, 2018) | germline | clinical testing | |
SCV001589927 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Sep 5, 2022) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos Â, Abe-Sandes K, Galvão HCR, Reis RM, de Pádua Souza C, Campacci N, Achatz MI, Brianese RC, da Cruz Formiga MN, Makdissi FB, Vargas FR, Evangelista Dos Santos AC, Seuanez HN, Lobo de Souza KR, Netto CBO, Santos-Silva P, da Silva GS, Burbano RMR, et al.
Sci Rep. 2018 Jun 15;8(1):9188. doi: 10.1038/s41598-018-27315-2.
- PMID:
- 29907814
- PMCID:
- PMC6003960
Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.
Cancer Res. 2005 Nov 1;65(21):10096-103.
- PMID:
- 16267036
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916819.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (4) |
Description
Variant summary: BRCA1 c.4185G>A (p.Gln1395Gln) alters a conserved nucleotide located at the last nucleotide of an exon and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes/weakens a 5' splicing donor site. Four predict the variant abolishes/weakens a 3' acceptor site. Multiple publications report experimental evidence that this variant affects mRNA splicing (Claes_2003, Wappenschmidt_2012) and one reports reduced expression of BRCA1 protein levels (Taylor_1998). The variant was absent in 237624 control chromosomes (gnomAD) and has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Claes_2003, Wang_2014, Palmero _2018, Wappenschmidt_2012) . These data indicate that the variant is very likely to be associated with disease. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories have classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
# | 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 Invitae, SCV001589927.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (8) |
Description
For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 11 (also known as exon 12) and introduces a premature termination codon (PMID: 7493024, 12759930, 23239986). The resulting mRNA is expected to undergo nonsense-mediated decay. Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 31131967). ClinVar contains an entry for this variant (Variation ID: 55131). This variant is also known as 4304G>A. This variant has been observed in individual(s) with breast cancer and/or ovarian cancer (PMID: 7493024, 9649133, 12759930, 23239986). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 1395 of the BRCA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
# | 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