NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) AND not specified
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 3, 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:
- RCV000173843.17
Allele description [Variation Report for NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)]
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
- 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.2368A>G (p.Thr790Ala)
- Other names:
- p.T790A:ACT>GCT
- HGVS:
- NC_000017.11:g.43093163T>C
- NG_005905.2:g.124821A>G
- NM_001407571.1:c.2155A>G
- NM_001407581.1:c.2368A>G
- NM_001407582.1:c.2368A>G
- NM_001407583.1:c.2368A>G
- NM_001407585.1:c.2368A>G
- NM_001407587.1:c.2365A>G
- NM_001407590.1:c.2365A>G
- NM_001407591.1:c.2365A>G
- NM_001407593.1:c.2368A>G
- NM_001407594.1:c.2368A>G
- NM_001407596.1:c.2368A>G
- NM_001407597.1:c.2368A>G
- NM_001407598.1:c.2368A>G
- NM_001407602.1:c.2368A>G
- NM_001407603.1:c.2368A>G
- NM_001407605.1:c.2368A>G
- NM_001407610.1:c.2365A>G
- NM_001407611.1:c.2365A>G
- NM_001407612.1:c.2365A>G
- NM_001407613.1:c.2365A>G
- NM_001407614.1:c.2365A>G
- NM_001407615.1:c.2365A>G
- NM_001407616.1:c.2368A>G
- NM_001407617.1:c.2368A>G
- NM_001407618.1:c.2368A>G
- NM_001407619.1:c.2368A>G
- NM_001407620.1:c.2368A>G
- NM_001407621.1:c.2368A>G
- NM_001407622.1:c.2368A>G
- NM_001407623.1:c.2368A>G
- NM_001407624.1:c.2368A>G
- NM_001407625.1:c.2368A>G
- NM_001407626.1:c.2368A>G
- NM_001407627.1:c.2365A>G
- NM_001407628.1:c.2365A>G
- NM_001407629.1:c.2365A>G
- NM_001407630.1:c.2365A>G
- NM_001407631.1:c.2365A>G
- NM_001407632.1:c.2365A>G
- NM_001407633.1:c.2365A>G
- NM_001407634.1:c.2365A>G
- NM_001407635.1:c.2365A>G
- NM_001407636.1:c.2365A>G
- NM_001407637.1:c.2365A>G
- NM_001407638.1:c.2365A>G
- NM_001407639.1:c.2368A>G
- NM_001407640.1:c.2368A>G
- NM_001407641.1:c.2368A>G
- NM_001407642.1:c.2368A>G
- NM_001407644.1:c.2365A>G
- NM_001407645.1:c.2365A>G
- NM_001407646.1:c.2359A>G
- NM_001407647.1:c.2359A>G
- NM_001407648.1:c.2245A>G
- NM_001407649.1:c.2242A>G
- NM_001407652.1:c.2368A>G
- NM_001407653.1:c.2290A>G
- NM_001407654.1:c.2290A>G
- NM_001407655.1:c.2290A>G
- NM_001407656.1:c.2290A>G
- NM_001407657.1:c.2290A>G
- NM_001407658.1:c.2290A>G
- NM_001407659.1:c.2287A>G
- NM_001407660.1:c.2287A>G
- NM_001407661.1:c.2287A>G
- NM_001407662.1:c.2287A>G
- NM_001407663.1:c.2290A>G
- NM_001407664.1:c.2245A>G
- NM_001407665.1:c.2245A>G
- NM_001407666.1:c.2245A>G
- NM_001407667.1:c.2245A>G
- NM_001407668.1:c.2245A>G
- NM_001407669.1:c.2245A>G
- NM_001407670.1:c.2242A>G
- NM_001407671.1:c.2242A>G
- NM_001407672.1:c.2242A>G
- NM_001407673.1:c.2242A>G
- NM_001407674.1:c.2245A>G
- NM_001407675.1:c.2245A>G
- NM_001407676.1:c.2245A>G
- NM_001407677.1:c.2245A>G
- NM_001407678.1:c.2245A>G
- NM_001407679.1:c.2245A>G
- NM_001407680.1:c.2245A>G
- NM_001407681.1:c.2245A>G
- NM_001407682.1:c.2245A>G
- NM_001407683.1:c.2245A>G
- NM_001407684.1:c.2368A>G
- NM_001407685.1:c.2242A>G
- NM_001407686.1:c.2242A>G
- NM_001407687.1:c.2242A>G
- NM_001407688.1:c.2242A>G
- NM_001407689.1:c.2242A>G
- NM_001407690.1:c.2242A>G
- NM_001407691.1:c.2242A>G
- NM_001407692.1:c.2227A>G
- NM_001407694.1:c.2227A>G
- NM_001407695.1:c.2227A>G
- NM_001407696.1:c.2227A>G
- NM_001407697.1:c.2227A>G
- NM_001407698.1:c.2227A>G
- NM_001407724.1:c.2227A>G
- NM_001407725.1:c.2227A>G
- NM_001407726.1:c.2227A>G
- NM_001407727.1:c.2227A>G
- NM_001407728.1:c.2227A>G
- NM_001407729.1:c.2227A>G
- NM_001407730.1:c.2227A>G
- NM_001407731.1:c.2227A>G
- NM_001407732.1:c.2227A>G
- NM_001407733.1:c.2227A>G
- NM_001407734.1:c.2227A>G
- NM_001407735.1:c.2227A>G
- NM_001407736.1:c.2227A>G
- NM_001407737.1:c.2227A>G
- NM_001407738.1:c.2227A>G
- NM_001407739.1:c.2227A>G
- NM_001407740.1:c.2224A>G
- NM_001407741.1:c.2224A>G
- NM_001407742.1:c.2224A>G
- NM_001407743.1:c.2224A>G
- NM_001407744.1:c.2224A>G
- NM_001407745.1:c.2224A>G
- NM_001407746.1:c.2224A>G
- NM_001407747.1:c.2224A>G
- NM_001407748.1:c.2224A>G
- NM_001407749.1:c.2224A>G
- NM_001407750.1:c.2227A>G
- NM_001407751.1:c.2227A>G
- NM_001407752.1:c.2227A>G
- NM_001407838.1:c.2224A>G
- NM_001407839.1:c.2224A>G
- NM_001407841.1:c.2224A>G
- NM_001407842.1:c.2224A>G
- NM_001407843.1:c.2224A>G
- NM_001407844.1:c.2224A>G
- NM_001407845.1:c.2224A>G
- NM_001407846.1:c.2224A>G
- NM_001407847.1:c.2224A>G
- NM_001407848.1:c.2224A>G
- NM_001407849.1:c.2224A>G
- NM_001407850.1:c.2227A>G
- NM_001407851.1:c.2227A>G
- NM_001407852.1:c.2227A>G
- NM_001407853.1:c.2155A>G
- NM_001407854.1:c.2368A>G
- NM_001407858.1:c.2368A>G
- NM_001407859.1:c.2368A>G
- NM_001407860.1:c.2365A>G
- NM_001407861.1:c.2365A>G
- NM_001407862.1:c.2167A>G
- NM_001407863.1:c.2245A>G
- NM_001407874.1:c.2164A>G
- NM_001407875.1:c.2164A>G
- NM_001407879.1:c.2158A>G
- NM_001407881.1:c.2158A>G
- NM_001407882.1:c.2158A>G
- NM_001407884.1:c.2158A>G
- NM_001407885.1:c.2158A>G
- NM_001407886.1:c.2158A>G
- NM_001407887.1:c.2158A>G
- NM_001407889.1:c.2158A>G
- NM_001407894.1:c.2155A>G
- NM_001407895.1:c.2155A>G
- NM_001407896.1:c.2155A>G
- NM_001407897.1:c.2155A>G
- NM_001407898.1:c.2155A>G
- NM_001407899.1:c.2155A>G
- NM_001407900.1:c.2158A>G
- NM_001407902.1:c.2158A>G
- NM_001407904.1:c.2158A>G
- NM_001407906.1:c.2158A>G
- NM_001407907.1:c.2158A>G
- NM_001407908.1:c.2158A>G
- NM_001407909.1:c.2158A>G
- NM_001407910.1:c.2158A>G
- NM_001407915.1:c.2155A>G
- NM_001407916.1:c.2155A>G
- NM_001407917.1:c.2155A>G
- NM_001407918.1:c.2155A>G
- NM_001407919.1:c.2245A>G
- NM_001407920.1:c.2104A>G
- NM_001407921.1:c.2104A>G
- NM_001407922.1:c.2104A>G
- NM_001407923.1:c.2104A>G
- NM_001407924.1:c.2104A>G
- NM_001407925.1:c.2104A>G
- NM_001407926.1:c.2104A>G
- NM_001407927.1:c.2104A>G
- NM_001407928.1:c.2104A>G
- NM_001407929.1:c.2104A>G
- NM_001407930.1:c.2101A>G
- NM_001407931.1:c.2101A>G
- NM_001407932.1:c.2101A>G
- NM_001407933.1:c.2104A>G
- NM_001407934.1:c.2101A>G
- NM_001407935.1:c.2104A>G
- NM_001407936.1:c.2101A>G
- NM_001407937.1:c.2245A>G
- NM_001407938.1:c.2245A>G
- NM_001407939.1:c.2245A>G
- NM_001407940.1:c.2242A>G
- NM_001407941.1:c.2242A>G
- NM_001407942.1:c.2227A>G
- NM_001407943.1:c.2224A>G
- NM_001407944.1:c.2227A>G
- NM_001407945.1:c.2227A>G
- NM_001407946.1:c.2035A>G
- NM_001407947.1:c.2035A>G
- NM_001407948.1:c.2035A>G
- NM_001407949.1:c.2035A>G
- NM_001407950.1:c.2035A>G
- NM_001407951.1:c.2035A>G
- NM_001407952.1:c.2035A>G
- NM_001407953.1:c.2035A>G
- NM_001407954.1:c.2032A>G
- NM_001407955.1:c.2032A>G
- NM_001407956.1:c.2032A>G
- NM_001407957.1:c.2035A>G
- NM_001407958.1:c.2032A>G
- NM_001407959.1:c.1987A>G
- NM_001407960.1:c.1987A>G
- NM_001407962.1:c.1984A>G
- NM_001407963.1:c.1987A>G
- NM_001407964.1:c.2224A>G
- NM_001407965.1:c.1864A>G
- NM_001407966.1:c.1480A>G
- NM_001407967.1:c.1480A>G
- NM_001407968.1:c.788-1024A>G
- NM_001407969.1:c.788-1024A>G
- NM_001407970.1:c.787+1581A>G
- NM_001407971.1:c.787+1581A>G
- NM_001407972.1:c.784+1581A>G
- NM_001407973.1:c.787+1581A>G
- NM_001407974.1:c.787+1581A>G
- NM_001407975.1:c.787+1581A>G
- NM_001407976.1:c.787+1581A>G
- NM_001407977.1:c.787+1581A>G
- NM_001407978.1:c.787+1581A>G
- NM_001407979.1:c.787+1581A>G
- NM_001407980.1:c.787+1581A>G
- NM_001407981.1:c.787+1581A>G
- NM_001407982.1:c.787+1581A>G
- NM_001407983.1:c.787+1581A>G
- NM_001407984.1:c.784+1581A>G
- NM_001407985.1:c.784+1581A>G
- NM_001407986.1:c.784+1581A>G
- NM_001407990.1:c.787+1581A>G
- NM_001407991.1:c.784+1581A>G
- NM_001407992.1:c.784+1581A>G
- NM_001407993.1:c.787+1581A>G
- NM_001408392.1:c.784+1581A>G
- NM_001408396.1:c.784+1581A>G
- NM_001408397.1:c.784+1581A>G
- NM_001408398.1:c.784+1581A>G
- NM_001408399.1:c.784+1581A>G
- NM_001408400.1:c.784+1581A>G
- NM_001408401.1:c.784+1581A>G
- NM_001408402.1:c.784+1581A>G
- NM_001408403.1:c.787+1581A>G
- NM_001408404.1:c.787+1581A>G
- NM_001408406.1:c.790+1578A>G
- NM_001408407.1:c.784+1581A>G
- NM_001408408.1:c.778+1581A>G
- NM_001408409.1:c.709+1581A>G
- NM_001408410.1:c.646+1581A>G
- NM_001408411.1:c.709+1581A>G
- NM_001408412.1:c.709+1581A>G
- NM_001408413.1:c.706+1581A>G
- NM_001408414.1:c.709+1581A>G
- NM_001408415.1:c.709+1581A>G
- NM_001408416.1:c.706+1581A>G
- NM_001408418.1:c.671-2131A>G
- NM_001408419.1:c.671-2131A>G
- NM_001408420.1:c.671-2131A>G
- NM_001408421.1:c.668-2131A>G
- NM_001408422.1:c.671-2131A>G
- NM_001408423.1:c.671-2131A>G
- NM_001408424.1:c.668-2131A>G
- NM_001408425.1:c.664+1581A>G
- NM_001408426.1:c.664+1581A>G
- NM_001408427.1:c.664+1581A>G
- NM_001408428.1:c.664+1581A>G
- NM_001408429.1:c.664+1581A>G
- NM_001408430.1:c.664+1581A>G
- NM_001408431.1:c.668-2131A>G
- NM_001408432.1:c.661+1581A>G
- NM_001408433.1:c.661+1581A>G
- NM_001408434.1:c.661+1581A>G
- NM_001408435.1:c.661+1581A>G
- NM_001408436.1:c.664+1581A>G
- NM_001408437.1:c.664+1581A>G
- NM_001408438.1:c.664+1581A>G
- NM_001408439.1:c.664+1581A>G
- NM_001408440.1:c.664+1581A>G
- NM_001408441.1:c.664+1581A>G
- NM_001408442.1:c.664+1581A>G
- NM_001408443.1:c.664+1581A>G
- NM_001408444.1:c.664+1581A>G
- NM_001408445.1:c.661+1581A>G
- NM_001408446.1:c.661+1581A>G
- NM_001408447.1:c.661+1581A>G
- NM_001408448.1:c.661+1581A>G
- NM_001408450.1:c.661+1581A>G
- NM_001408451.1:c.652+1581A>G
- NM_001408452.1:c.646+1581A>G
- NM_001408453.1:c.646+1581A>G
- NM_001408454.1:c.646+1581A>G
- NM_001408455.1:c.646+1581A>G
- NM_001408456.1:c.646+1581A>G
- NM_001408457.1:c.646+1581A>G
- NM_001408458.1:c.646+1581A>G
- NM_001408459.1:c.646+1581A>G
- NM_001408460.1:c.646+1581A>G
- NM_001408461.1:c.646+1581A>G
- NM_001408462.1:c.643+1581A>G
- NM_001408463.1:c.643+1581A>G
- NM_001408464.1:c.643+1581A>G
- NM_001408465.1:c.643+1581A>G
- NM_001408466.1:c.646+1581A>G
- NM_001408467.1:c.646+1581A>G
- NM_001408468.1:c.643+1581A>G
- NM_001408469.1:c.646+1581A>G
- NM_001408470.1:c.643+1581A>G
- NM_001408472.1:c.787+1581A>G
- NM_001408473.1:c.784+1581A>G
- NM_001408474.1:c.586+1581A>G
- NM_001408475.1:c.583+1581A>G
- NM_001408476.1:c.586+1581A>G
- NM_001408478.1:c.577+1581A>G
- NM_001408479.1:c.577+1581A>G
- NM_001408480.1:c.577+1581A>G
- NM_001408481.1:c.577+1581A>G
- NM_001408482.1:c.577+1581A>G
- NM_001408483.1:c.577+1581A>G
- NM_001408484.1:c.577+1581A>G
- NM_001408485.1:c.577+1581A>G
- NM_001408489.1:c.577+1581A>G
- NM_001408490.1:c.574+1581A>G
- NM_001408491.1:c.574+1581A>G
- NM_001408492.1:c.577+1581A>G
- NM_001408493.1:c.574+1581A>G
- NM_001408494.1:c.548-2131A>G
- NM_001408495.1:c.545-2131A>G
- NM_001408496.1:c.523+1581A>G
- NM_001408497.1:c.523+1581A>G
- NM_001408498.1:c.523+1581A>G
- NM_001408499.1:c.523+1581A>G
- NM_001408500.1:c.523+1581A>G
- NM_001408501.1:c.523+1581A>G
- NM_001408502.1:c.454+1581A>G
- NM_001408503.1:c.520+1581A>G
- NM_001408504.1:c.520+1581A>G
- NM_001408505.1:c.520+1581A>G
- NM_001408506.1:c.461-2131A>G
- NM_001408507.1:c.461-2131A>G
- NM_001408508.1:c.451+1581A>G
- NM_001408509.1:c.451+1581A>G
- NM_001408510.1:c.406+1581A>G
- NM_001408511.1:c.404-2131A>G
- NM_001408512.1:c.283+1581A>G
- NM_001408513.1:c.577+1581A>G
- NM_001408514.1:c.577+1581A>G
- NM_007294.4:c.2368A>GMANE SELECT
- NM_007297.4:c.2227A>G
- NM_007298.4:c.787+1581A>G
- NM_007299.4:c.787+1581A>G
- NM_007300.4:c.2368A>G
- NP_001394500.1:p.Thr719Ala
- NP_001394510.1:p.Thr790Ala
- NP_001394511.1:p.Thr790Ala
- NP_001394512.1:p.Thr790Ala
- NP_001394514.1:p.Thr790Ala
- NP_001394516.1:p.Thr789Ala
- NP_001394519.1:p.Thr789Ala
- NP_001394520.1:p.Thr789Ala
- NP_001394522.1:p.Thr790Ala
- NP_001394523.1:p.Thr790Ala
- NP_001394525.1:p.Thr790Ala
- NP_001394526.1:p.Thr790Ala
- NP_001394527.1:p.Thr790Ala
- NP_001394531.1:p.Thr790Ala
- NP_001394532.1:p.Thr790Ala
- NP_001394534.1:p.Thr790Ala
- NP_001394539.1:p.Thr789Ala
- NP_001394540.1:p.Thr789Ala
- NP_001394541.1:p.Thr789Ala
- NP_001394542.1:p.Thr789Ala
- NP_001394543.1:p.Thr789Ala
- NP_001394544.1:p.Thr789Ala
- NP_001394545.1:p.Thr790Ala
- NP_001394546.1:p.Thr790Ala
- NP_001394547.1:p.Thr790Ala
- NP_001394548.1:p.Thr790Ala
- NP_001394549.1:p.Thr790Ala
- NP_001394550.1:p.Thr790Ala
- NP_001394551.1:p.Thr790Ala
- NP_001394552.1:p.Thr790Ala
- NP_001394553.1:p.Thr790Ala
- NP_001394554.1:p.Thr790Ala
- NP_001394555.1:p.Thr790Ala
- NP_001394556.1:p.Thr789Ala
- NP_001394557.1:p.Thr789Ala
- NP_001394558.1:p.Thr789Ala
- NP_001394559.1:p.Thr789Ala
- NP_001394560.1:p.Thr789Ala
- NP_001394561.1:p.Thr789Ala
- NP_001394562.1:p.Thr789Ala
- NP_001394563.1:p.Thr789Ala
- NP_001394564.1:p.Thr789Ala
- NP_001394565.1:p.Thr789Ala
- NP_001394566.1:p.Thr789Ala
- NP_001394567.1:p.Thr789Ala
- NP_001394568.1:p.Thr790Ala
- NP_001394569.1:p.Thr790Ala
- NP_001394570.1:p.Thr790Ala
- NP_001394571.1:p.Thr790Ala
- NP_001394573.1:p.Thr789Ala
- NP_001394574.1:p.Thr789Ala
- NP_001394575.1:p.Thr787Ala
- NP_001394576.1:p.Thr787Ala
- NP_001394577.1:p.Thr749Ala
- NP_001394578.1:p.Thr748Ala
- NP_001394581.1:p.Thr790Ala
- NP_001394582.1:p.Thr764Ala
- NP_001394583.1:p.Thr764Ala
- NP_001394584.1:p.Thr764Ala
- NP_001394585.1:p.Thr764Ala
- NP_001394586.1:p.Thr764Ala
- NP_001394587.1:p.Thr764Ala
- NP_001394588.1:p.Thr763Ala
- NP_001394589.1:p.Thr763Ala
- NP_001394590.1:p.Thr763Ala
- NP_001394591.1:p.Thr763Ala
- NP_001394592.1:p.Thr764Ala
- NP_001394593.1:p.Thr749Ala
- NP_001394594.1:p.Thr749Ala
- NP_001394595.1:p.Thr749Ala
- NP_001394596.1:p.Thr749Ala
- NP_001394597.1:p.Thr749Ala
- NP_001394598.1:p.Thr749Ala
- NP_001394599.1:p.Thr748Ala
- NP_001394600.1:p.Thr748Ala
- NP_001394601.1:p.Thr748Ala
- NP_001394602.1:p.Thr748Ala
- NP_001394603.1:p.Thr749Ala
- NP_001394604.1:p.Thr749Ala
- NP_001394605.1:p.Thr749Ala
- NP_001394606.1:p.Thr749Ala
- NP_001394607.1:p.Thr749Ala
- NP_001394608.1:p.Thr749Ala
- NP_001394609.1:p.Thr749Ala
- NP_001394610.1:p.Thr749Ala
- NP_001394611.1:p.Thr749Ala
- NP_001394612.1:p.Thr749Ala
- NP_001394613.1:p.Thr790Ala
- NP_001394614.1:p.Thr748Ala
- NP_001394615.1:p.Thr748Ala
- NP_001394616.1:p.Thr748Ala
- NP_001394617.1:p.Thr748Ala
- NP_001394618.1:p.Thr748Ala
- NP_001394619.1:p.Thr748Ala
- NP_001394620.1:p.Thr748Ala
- NP_001394621.1:p.Thr743Ala
- NP_001394623.1:p.Thr743Ala
- NP_001394624.1:p.Thr743Ala
- NP_001394625.1:p.Thr743Ala
- NP_001394626.1:p.Thr743Ala
- NP_001394627.1:p.Thr743Ala
- NP_001394653.1:p.Thr743Ala
- NP_001394654.1:p.Thr743Ala
- NP_001394655.1:p.Thr743Ala
- NP_001394656.1:p.Thr743Ala
- NP_001394657.1:p.Thr743Ala
- NP_001394658.1:p.Thr743Ala
- NP_001394659.1:p.Thr743Ala
- NP_001394660.1:p.Thr743Ala
- NP_001394661.1:p.Thr743Ala
- NP_001394662.1:p.Thr743Ala
- NP_001394663.1:p.Thr743Ala
- NP_001394664.1:p.Thr743Ala
- NP_001394665.1:p.Thr743Ala
- NP_001394666.1:p.Thr743Ala
- NP_001394667.1:p.Thr743Ala
- NP_001394668.1:p.Thr743Ala
- NP_001394669.1:p.Thr742Ala
- NP_001394670.1:p.Thr742Ala
- NP_001394671.1:p.Thr742Ala
- NP_001394672.1:p.Thr742Ala
- NP_001394673.1:p.Thr742Ala
- NP_001394674.1:p.Thr742Ala
- NP_001394675.1:p.Thr742Ala
- NP_001394676.1:p.Thr742Ala
- NP_001394677.1:p.Thr742Ala
- NP_001394678.1:p.Thr742Ala
- NP_001394679.1:p.Thr743Ala
- NP_001394680.1:p.Thr743Ala
- NP_001394681.1:p.Thr743Ala
- NP_001394767.1:p.Thr742Ala
- NP_001394768.1:p.Thr742Ala
- NP_001394770.1:p.Thr742Ala
- NP_001394771.1:p.Thr742Ala
- NP_001394772.1:p.Thr742Ala
- NP_001394773.1:p.Thr742Ala
- NP_001394774.1:p.Thr742Ala
- NP_001394775.1:p.Thr742Ala
- NP_001394776.1:p.Thr742Ala
- NP_001394777.1:p.Thr742Ala
- NP_001394778.1:p.Thr742Ala
- NP_001394779.1:p.Thr743Ala
- NP_001394780.1:p.Thr743Ala
- NP_001394781.1:p.Thr743Ala
- NP_001394782.1:p.Thr719Ala
- NP_001394783.1:p.Thr790Ala
- NP_001394787.1:p.Thr790Ala
- NP_001394788.1:p.Thr790Ala
- NP_001394789.1:p.Thr789Ala
- NP_001394790.1:p.Thr789Ala
- NP_001394791.1:p.Thr723Ala
- NP_001394792.1:p.Thr749Ala
- NP_001394803.1:p.Thr722Ala
- NP_001394804.1:p.Thr722Ala
- NP_001394808.1:p.Thr720Ala
- NP_001394810.1:p.Thr720Ala
- NP_001394811.1:p.Thr720Ala
- NP_001394813.1:p.Thr720Ala
- NP_001394814.1:p.Thr720Ala
- NP_001394815.1:p.Thr720Ala
- NP_001394816.1:p.Thr720Ala
- NP_001394818.1:p.Thr720Ala
- NP_001394823.1:p.Thr719Ala
- NP_001394824.1:p.Thr719Ala
- NP_001394825.1:p.Thr719Ala
- NP_001394826.1:p.Thr719Ala
- NP_001394827.1:p.Thr719Ala
- NP_001394828.1:p.Thr719Ala
- NP_001394829.1:p.Thr720Ala
- NP_001394831.1:p.Thr720Ala
- NP_001394833.1:p.Thr720Ala
- NP_001394835.1:p.Thr720Ala
- NP_001394836.1:p.Thr720Ala
- NP_001394837.1:p.Thr720Ala
- NP_001394838.1:p.Thr720Ala
- NP_001394839.1:p.Thr720Ala
- NP_001394844.1:p.Thr719Ala
- NP_001394845.1:p.Thr719Ala
- NP_001394846.1:p.Thr719Ala
- NP_001394847.1:p.Thr719Ala
- NP_001394848.1:p.Thr749Ala
- NP_001394849.1:p.Thr702Ala
- NP_001394850.1:p.Thr702Ala
- NP_001394851.1:p.Thr702Ala
- NP_001394852.1:p.Thr702Ala
- NP_001394853.1:p.Thr702Ala
- NP_001394854.1:p.Thr702Ala
- NP_001394855.1:p.Thr702Ala
- NP_001394856.1:p.Thr702Ala
- NP_001394857.1:p.Thr702Ala
- NP_001394858.1:p.Thr702Ala
- NP_001394859.1:p.Thr701Ala
- NP_001394860.1:p.Thr701Ala
- NP_001394861.1:p.Thr701Ala
- NP_001394862.1:p.Thr702Ala
- NP_001394863.1:p.Thr701Ala
- NP_001394864.1:p.Thr702Ala
- NP_001394865.1:p.Thr701Ala
- NP_001394866.1:p.Thr749Ala
- NP_001394867.1:p.Thr749Ala
- NP_001394868.1:p.Thr749Ala
- NP_001394869.1:p.Thr748Ala
- NP_001394870.1:p.Thr748Ala
- NP_001394871.1:p.Thr743Ala
- NP_001394872.1:p.Thr742Ala
- NP_001394873.1:p.Thr743Ala
- NP_001394874.1:p.Thr743Ala
- NP_001394875.1:p.Thr679Ala
- NP_001394876.1:p.Thr679Ala
- NP_001394877.1:p.Thr679Ala
- NP_001394878.1:p.Thr679Ala
- NP_001394879.1:p.Thr679Ala
- NP_001394880.1:p.Thr679Ala
- NP_001394881.1:p.Thr679Ala
- NP_001394882.1:p.Thr679Ala
- NP_001394883.1:p.Thr678Ala
- NP_001394884.1:p.Thr678Ala
- NP_001394885.1:p.Thr678Ala
- NP_001394886.1:p.Thr679Ala
- NP_001394887.1:p.Thr678Ala
- NP_001394888.1:p.Thr663Ala
- NP_001394889.1:p.Thr663Ala
- NP_001394891.1:p.Thr662Ala
- NP_001394892.1:p.Thr663Ala
- NP_001394893.1:p.Thr742Ala
- NP_001394894.1:p.Thr622Ala
- NP_001394895.1:p.Thr494Ala
- NP_001394896.1:p.Thr494Ala
- NP_009225.1:p.Thr790Ala
- NP_009225.1:p.Thr790Ala
- NP_009228.2:p.Thr743Ala
- NP_009231.2:p.Thr790Ala
- LRG_292t1:c.2368A>G
- LRG_292:g.124821A>G
- LRG_292p1:p.Thr790Ala
- NC_000017.10:g.41245180T>C
- NM_007294.3:c.2368A>G
- NR_027676.1:n.2504A>G
- U14680.1:n.2487A>G
- p.T790A
This HGVS expression did not pass validation- Nucleotide change:
- 2487A>G
- Protein change:
- T494A
- Links:
- dbSNP: rs41286298
- NCBI 1000 Genomes Browser:
- rs41286298
- Molecular consequence:
- NM_001407968.1:c.788-1024A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-1024A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.790+1578A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.778+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.706+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.709+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.706+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.664+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.661+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.652+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.646+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.643+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.784+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.586+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.583+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.586+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.574+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.574+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.574+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.523+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.454+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.520+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.520+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.520+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.451+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.451+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.406+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-2131A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.283+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.577+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.787+1581A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.2359A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.2359A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.2287A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.2287A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.2287A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.2287A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.2290A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.2365A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.2245A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.2242A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.2032A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.2032A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.2032A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.2035A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.2032A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.1987A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.1987A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.1984A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.1987A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.1864A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.1480A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.1480A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.2227A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.2368A>G - missense variant - [Sequence Ontology: SO:0001583]
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 |
---|---|---|---|---|---|---|
SCV000916717 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Benign (Nov 13, 2018) | germline | clinical testing | |
SCV002070433 | Genetic Services Laboratory, University of Chicago | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Jan 3, 2022) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | no | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Haffty BG, Silber A, Matloff E, Chung J, Lannin D.
J Med Genet. 2006 Feb;43(2):133-7. Epub 2005 Jun 27.
- PMID:
- 15983021
- PMCID:
- PMC2564628
Lefevre JH, Bonilla C, Colas C, Winney B, Johnstone E, Tonks S, Day T, Hutnik K, Boumertit A, Soubrier F, Midgley R, Kerr D, Parc Y, Bodmer WF.
J Hum Genet. 2012 Nov 26;57(11):709-716. doi: 10.1038/jhg.2012.99. Epub 2012 Aug 9.
- PMID:
- 22875147
- PMCID:
- PMC5140019
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916717.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (11) |
Description
Variant summary: BRCA1 c.2368A>G (p.Thr790Ala) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 9.9e-05 in 282008 control chromosomes, predominantly within the African subpopulation at a frequency of 0.001 in the gnomAD database. This frequency is about the same as expected for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (0.001 vs 0.001), suggesting a benign role for the variant. c.2368A>G has been reported in the literature in several individuals of African and/or African American ancestry affected with Hereditary Breast and Ovarian Cancer. Due to the similarity in the ethnicity between control chromosomes and published reports, these occurrences do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic BRCA1 variants have been reported in the UMD database (c.5324T>G (p.Met1775Arg) in one individual and c.1961dup (p.Tyr655valfsX18) in another), in addition, several co-occurrences with pathogenic BRCA2 variants have also been reported (in the BIC database: c.5946_5946delT (p.Ser1982fsX22) in one individual, and c.8948_8953+5delATTCAGGTAAG in two other individuals; and in LCA internal samples: c.2808delA (p.Lys936fsX24) in one individual and c.5351dupA (p.Asn1784fsX3) in another individual). These multiple co-occurrences strongly support a benign role for the variant. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as Benign (1x) / Likely benign (2x). Based on the evidence outlined above, the variant was re-classified as benign.
# | 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 Genetic Services Laboratory, University of Chicago, SCV002070433.1
# | 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 | no | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jan 19, 2025