NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu) AND Hereditary cancer-predisposing syndrome
- 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:
- RCV000164916.11
Allele description [Variation Report for NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu)]
NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu)
- 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.2218G>T (p.Val740Leu)
- HGVS:
- NC_000017.11:g.43093313C>A
- NG_005905.2:g.124671G>T
- NM_001407571.1:c.2005G>T
- NM_001407581.1:c.2218G>T
- NM_001407582.1:c.2218G>T
- NM_001407583.1:c.2218G>T
- NM_001407585.1:c.2218G>T
- NM_001407587.1:c.2215G>T
- NM_001407590.1:c.2215G>T
- NM_001407591.1:c.2215G>T
- NM_001407593.1:c.2218G>T
- NM_001407594.1:c.2218G>T
- NM_001407596.1:c.2218G>T
- NM_001407597.1:c.2218G>T
- NM_001407598.1:c.2218G>T
- NM_001407602.1:c.2218G>T
- NM_001407603.1:c.2218G>T
- NM_001407605.1:c.2218G>T
- NM_001407610.1:c.2215G>T
- NM_001407611.1:c.2215G>T
- NM_001407612.1:c.2215G>T
- NM_001407613.1:c.2215G>T
- NM_001407614.1:c.2215G>T
- NM_001407615.1:c.2215G>T
- NM_001407616.1:c.2218G>T
- NM_001407617.1:c.2218G>T
- NM_001407618.1:c.2218G>T
- NM_001407619.1:c.2218G>T
- NM_001407620.1:c.2218G>T
- NM_001407621.1:c.2218G>T
- NM_001407622.1:c.2218G>T
- NM_001407623.1:c.2218G>T
- NM_001407624.1:c.2218G>T
- NM_001407625.1:c.2218G>T
- NM_001407626.1:c.2218G>T
- NM_001407627.1:c.2215G>T
- NM_001407628.1:c.2215G>T
- NM_001407629.1:c.2215G>T
- NM_001407630.1:c.2215G>T
- NM_001407631.1:c.2215G>T
- NM_001407632.1:c.2215G>T
- NM_001407633.1:c.2215G>T
- NM_001407634.1:c.2215G>T
- NM_001407635.1:c.2215G>T
- NM_001407636.1:c.2215G>T
- NM_001407637.1:c.2215G>T
- NM_001407638.1:c.2215G>T
- NM_001407639.1:c.2218G>T
- NM_001407640.1:c.2218G>T
- NM_001407641.1:c.2218G>T
- NM_001407642.1:c.2218G>T
- NM_001407644.1:c.2215G>T
- NM_001407645.1:c.2215G>T
- NM_001407646.1:c.2209G>T
- NM_001407647.1:c.2209G>T
- NM_001407648.1:c.2095G>T
- NM_001407649.1:c.2092G>T
- NM_001407652.1:c.2218G>T
- NM_001407653.1:c.2140G>T
- NM_001407654.1:c.2140G>T
- NM_001407655.1:c.2140G>T
- NM_001407656.1:c.2140G>T
- NM_001407657.1:c.2140G>T
- NM_001407658.1:c.2140G>T
- NM_001407659.1:c.2137G>T
- NM_001407660.1:c.2137G>T
- NM_001407661.1:c.2137G>T
- NM_001407662.1:c.2137G>T
- NM_001407663.1:c.2140G>T
- NM_001407664.1:c.2095G>T
- NM_001407665.1:c.2095G>T
- NM_001407666.1:c.2095G>T
- NM_001407667.1:c.2095G>T
- NM_001407668.1:c.2095G>T
- NM_001407669.1:c.2095G>T
- NM_001407670.1:c.2092G>T
- NM_001407671.1:c.2092G>T
- NM_001407672.1:c.2092G>T
- NM_001407673.1:c.2092G>T
- NM_001407674.1:c.2095G>T
- NM_001407675.1:c.2095G>T
- NM_001407676.1:c.2095G>T
- NM_001407677.1:c.2095G>T
- NM_001407678.1:c.2095G>T
- NM_001407679.1:c.2095G>T
- NM_001407680.1:c.2095G>T
- NM_001407681.1:c.2095G>T
- NM_001407682.1:c.2095G>T
- NM_001407683.1:c.2095G>T
- NM_001407684.1:c.2218G>T
- NM_001407685.1:c.2092G>T
- NM_001407686.1:c.2092G>T
- NM_001407687.1:c.2092G>T
- NM_001407688.1:c.2092G>T
- NM_001407689.1:c.2092G>T
- NM_001407690.1:c.2092G>T
- NM_001407691.1:c.2092G>T
- NM_001407692.1:c.2077G>T
- NM_001407694.1:c.2077G>T
- NM_001407695.1:c.2077G>T
- NM_001407696.1:c.2077G>T
- NM_001407697.1:c.2077G>T
- NM_001407698.1:c.2077G>T
- NM_001407724.1:c.2077G>T
- NM_001407725.1:c.2077G>T
- NM_001407726.1:c.2077G>T
- NM_001407727.1:c.2077G>T
- NM_001407728.1:c.2077G>T
- NM_001407729.1:c.2077G>T
- NM_001407730.1:c.2077G>T
- NM_001407731.1:c.2077G>T
- NM_001407732.1:c.2077G>T
- NM_001407733.1:c.2077G>T
- NM_001407734.1:c.2077G>T
- NM_001407735.1:c.2077G>T
- NM_001407736.1:c.2077G>T
- NM_001407737.1:c.2077G>T
- NM_001407738.1:c.2077G>T
- NM_001407739.1:c.2077G>T
- NM_001407740.1:c.2074G>T
- NM_001407741.1:c.2074G>T
- NM_001407742.1:c.2074G>T
- NM_001407743.1:c.2074G>T
- NM_001407744.1:c.2074G>T
- NM_001407745.1:c.2074G>T
- NM_001407746.1:c.2074G>T
- NM_001407747.1:c.2074G>T
- NM_001407748.1:c.2074G>T
- NM_001407749.1:c.2074G>T
- NM_001407750.1:c.2077G>T
- NM_001407751.1:c.2077G>T
- NM_001407752.1:c.2077G>T
- NM_001407838.1:c.2074G>T
- NM_001407839.1:c.2074G>T
- NM_001407841.1:c.2074G>T
- NM_001407842.1:c.2074G>T
- NM_001407843.1:c.2074G>T
- NM_001407844.1:c.2074G>T
- NM_001407845.1:c.2074G>T
- NM_001407846.1:c.2074G>T
- NM_001407847.1:c.2074G>T
- NM_001407848.1:c.2074G>T
- NM_001407849.1:c.2074G>T
- NM_001407850.1:c.2077G>T
- NM_001407851.1:c.2077G>T
- NM_001407852.1:c.2077G>T
- NM_001407853.1:c.2005G>T
- NM_001407854.1:c.2218G>T
- NM_001407858.1:c.2218G>T
- NM_001407859.1:c.2218G>T
- NM_001407860.1:c.2215G>T
- NM_001407861.1:c.2215G>T
- NM_001407862.1:c.2017G>T
- NM_001407863.1:c.2095G>T
- NM_001407874.1:c.2014G>T
- NM_001407875.1:c.2014G>T
- NM_001407879.1:c.2008G>T
- NM_001407881.1:c.2008G>T
- NM_001407882.1:c.2008G>T
- NM_001407884.1:c.2008G>T
- NM_001407885.1:c.2008G>T
- NM_001407886.1:c.2008G>T
- NM_001407887.1:c.2008G>T
- NM_001407889.1:c.2008G>T
- NM_001407894.1:c.2005G>T
- NM_001407895.1:c.2005G>T
- NM_001407896.1:c.2005G>T
- NM_001407897.1:c.2005G>T
- NM_001407898.1:c.2005G>T
- NM_001407899.1:c.2005G>T
- NM_001407900.1:c.2008G>T
- NM_001407902.1:c.2008G>T
- NM_001407904.1:c.2008G>T
- NM_001407906.1:c.2008G>T
- NM_001407907.1:c.2008G>T
- NM_001407908.1:c.2008G>T
- NM_001407909.1:c.2008G>T
- NM_001407910.1:c.2008G>T
- NM_001407915.1:c.2005G>T
- NM_001407916.1:c.2005G>T
- NM_001407917.1:c.2005G>T
- NM_001407918.1:c.2005G>T
- NM_001407919.1:c.2095G>T
- NM_001407920.1:c.1954G>T
- NM_001407921.1:c.1954G>T
- NM_001407922.1:c.1954G>T
- NM_001407923.1:c.1954G>T
- NM_001407924.1:c.1954G>T
- NM_001407925.1:c.1954G>T
- NM_001407926.1:c.1954G>T
- NM_001407927.1:c.1954G>T
- NM_001407928.1:c.1954G>T
- NM_001407929.1:c.1954G>T
- NM_001407930.1:c.1951G>T
- NM_001407931.1:c.1951G>T
- NM_001407932.1:c.1951G>T
- NM_001407933.1:c.1954G>T
- NM_001407934.1:c.1951G>T
- NM_001407935.1:c.1954G>T
- NM_001407936.1:c.1951G>T
- NM_001407937.1:c.2095G>T
- NM_001407938.1:c.2095G>T
- NM_001407939.1:c.2095G>T
- NM_001407940.1:c.2092G>T
- NM_001407941.1:c.2092G>T
- NM_001407942.1:c.2077G>T
- NM_001407943.1:c.2074G>T
- NM_001407944.1:c.2077G>T
- NM_001407945.1:c.2077G>T
- NM_001407946.1:c.1885G>T
- NM_001407947.1:c.1885G>T
- NM_001407948.1:c.1885G>T
- NM_001407949.1:c.1885G>T
- NM_001407950.1:c.1885G>T
- NM_001407951.1:c.1885G>T
- NM_001407952.1:c.1885G>T
- NM_001407953.1:c.1885G>T
- NM_001407954.1:c.1882G>T
- NM_001407955.1:c.1882G>T
- NM_001407956.1:c.1882G>T
- NM_001407957.1:c.1885G>T
- NM_001407958.1:c.1882G>T
- NM_001407959.1:c.1837G>T
- NM_001407960.1:c.1837G>T
- NM_001407962.1:c.1834G>T
- NM_001407963.1:c.1837G>T
- NM_001407964.1:c.2074G>T
- NM_001407965.1:c.1714G>T
- NM_001407966.1:c.1330G>T
- NM_001407967.1:c.1330G>T
- NM_001407968.1:c.788-1174G>T
- NM_001407969.1:c.788-1174G>T
- NM_001407970.1:c.787+1431G>T
- NM_001407971.1:c.787+1431G>T
- NM_001407972.1:c.784+1431G>T
- NM_001407973.1:c.787+1431G>T
- NM_001407974.1:c.787+1431G>T
- NM_001407975.1:c.787+1431G>T
- NM_001407976.1:c.787+1431G>T
- NM_001407977.1:c.787+1431G>T
- NM_001407978.1:c.787+1431G>T
- NM_001407979.1:c.787+1431G>T
- NM_001407980.1:c.787+1431G>T
- NM_001407981.1:c.787+1431G>T
- NM_001407982.1:c.787+1431G>T
- NM_001407983.1:c.787+1431G>T
- NM_001407984.1:c.784+1431G>T
- NM_001407985.1:c.784+1431G>T
- NM_001407986.1:c.784+1431G>T
- NM_001407990.1:c.787+1431G>T
- NM_001407991.1:c.784+1431G>T
- NM_001407992.1:c.784+1431G>T
- NM_001407993.1:c.787+1431G>T
- NM_001408392.1:c.784+1431G>T
- NM_001408396.1:c.784+1431G>T
- NM_001408397.1:c.784+1431G>T
- NM_001408398.1:c.784+1431G>T
- NM_001408399.1:c.784+1431G>T
- NM_001408400.1:c.784+1431G>T
- NM_001408401.1:c.784+1431G>T
- NM_001408402.1:c.784+1431G>T
- NM_001408403.1:c.787+1431G>T
- NM_001408404.1:c.787+1431G>T
- NM_001408406.1:c.790+1428G>T
- NM_001408407.1:c.784+1431G>T
- NM_001408408.1:c.778+1431G>T
- NM_001408409.1:c.709+1431G>T
- NM_001408410.1:c.646+1431G>T
- NM_001408411.1:c.709+1431G>T
- NM_001408412.1:c.709+1431G>T
- NM_001408413.1:c.706+1431G>T
- NM_001408414.1:c.709+1431G>T
- NM_001408415.1:c.709+1431G>T
- NM_001408416.1:c.706+1431G>T
- NM_001408418.1:c.671-2281G>T
- NM_001408419.1:c.671-2281G>T
- NM_001408420.1:c.671-2281G>T
- NM_001408421.1:c.668-2281G>T
- NM_001408422.1:c.671-2281G>T
- NM_001408423.1:c.671-2281G>T
- NM_001408424.1:c.668-2281G>T
- NM_001408425.1:c.664+1431G>T
- NM_001408426.1:c.664+1431G>T
- NM_001408427.1:c.664+1431G>T
- NM_001408428.1:c.664+1431G>T
- NM_001408429.1:c.664+1431G>T
- NM_001408430.1:c.664+1431G>T
- NM_001408431.1:c.668-2281G>T
- NM_001408432.1:c.661+1431G>T
- NM_001408433.1:c.661+1431G>T
- NM_001408434.1:c.661+1431G>T
- NM_001408435.1:c.661+1431G>T
- NM_001408436.1:c.664+1431G>T
- NM_001408437.1:c.664+1431G>T
- NM_001408438.1:c.664+1431G>T
- NM_001408439.1:c.664+1431G>T
- NM_001408440.1:c.664+1431G>T
- NM_001408441.1:c.664+1431G>T
- NM_001408442.1:c.664+1431G>T
- NM_001408443.1:c.664+1431G>T
- NM_001408444.1:c.664+1431G>T
- NM_001408445.1:c.661+1431G>T
- NM_001408446.1:c.661+1431G>T
- NM_001408447.1:c.661+1431G>T
- NM_001408448.1:c.661+1431G>T
- NM_001408450.1:c.661+1431G>T
- NM_001408451.1:c.652+1431G>T
- NM_001408452.1:c.646+1431G>T
- NM_001408453.1:c.646+1431G>T
- NM_001408454.1:c.646+1431G>T
- NM_001408455.1:c.646+1431G>T
- NM_001408456.1:c.646+1431G>T
- NM_001408457.1:c.646+1431G>T
- NM_001408458.1:c.646+1431G>T
- NM_001408459.1:c.646+1431G>T
- NM_001408460.1:c.646+1431G>T
- NM_001408461.1:c.646+1431G>T
- NM_001408462.1:c.643+1431G>T
- NM_001408463.1:c.643+1431G>T
- NM_001408464.1:c.643+1431G>T
- NM_001408465.1:c.643+1431G>T
- NM_001408466.1:c.646+1431G>T
- NM_001408467.1:c.646+1431G>T
- NM_001408468.1:c.643+1431G>T
- NM_001408469.1:c.646+1431G>T
- NM_001408470.1:c.643+1431G>T
- NM_001408472.1:c.787+1431G>T
- NM_001408473.1:c.784+1431G>T
- NM_001408474.1:c.586+1431G>T
- NM_001408475.1:c.583+1431G>T
- NM_001408476.1:c.586+1431G>T
- NM_001408478.1:c.577+1431G>T
- NM_001408479.1:c.577+1431G>T
- NM_001408480.1:c.577+1431G>T
- NM_001408481.1:c.577+1431G>T
- NM_001408482.1:c.577+1431G>T
- NM_001408483.1:c.577+1431G>T
- NM_001408484.1:c.577+1431G>T
- NM_001408485.1:c.577+1431G>T
- NM_001408489.1:c.577+1431G>T
- NM_001408490.1:c.574+1431G>T
- NM_001408491.1:c.574+1431G>T
- NM_001408492.1:c.577+1431G>T
- NM_001408493.1:c.574+1431G>T
- NM_001408494.1:c.548-2281G>T
- NM_001408495.1:c.545-2281G>T
- NM_001408496.1:c.523+1431G>T
- NM_001408497.1:c.523+1431G>T
- NM_001408498.1:c.523+1431G>T
- NM_001408499.1:c.523+1431G>T
- NM_001408500.1:c.523+1431G>T
- NM_001408501.1:c.523+1431G>T
- NM_001408502.1:c.454+1431G>T
- NM_001408503.1:c.520+1431G>T
- NM_001408504.1:c.520+1431G>T
- NM_001408505.1:c.520+1431G>T
- NM_001408506.1:c.461-2281G>T
- NM_001408507.1:c.461-2281G>T
- NM_001408508.1:c.451+1431G>T
- NM_001408509.1:c.451+1431G>T
- NM_001408510.1:c.406+1431G>T
- NM_001408511.1:c.404-2281G>T
- NM_001408512.1:c.283+1431G>T
- NM_001408513.1:c.577+1431G>T
- NM_001408514.1:c.577+1431G>T
- NM_007294.4:c.2218G>TMANE SELECT
- NM_007297.4:c.2077G>T
- NM_007298.4:c.787+1431G>T
- NM_007299.4:c.787+1431G>T
- NM_007300.4:c.2218G>T
- NP_001394500.1:p.Val669Leu
- NP_001394510.1:p.Val740Leu
- NP_001394511.1:p.Val740Leu
- NP_001394512.1:p.Val740Leu
- NP_001394514.1:p.Val740Leu
- NP_001394516.1:p.Val739Leu
- NP_001394519.1:p.Val739Leu
- NP_001394520.1:p.Val739Leu
- NP_001394522.1:p.Val740Leu
- NP_001394523.1:p.Val740Leu
- NP_001394525.1:p.Val740Leu
- NP_001394526.1:p.Val740Leu
- NP_001394527.1:p.Val740Leu
- NP_001394531.1:p.Val740Leu
- NP_001394532.1:p.Val740Leu
- NP_001394534.1:p.Val740Leu
- NP_001394539.1:p.Val739Leu
- NP_001394540.1:p.Val739Leu
- NP_001394541.1:p.Val739Leu
- NP_001394542.1:p.Val739Leu
- NP_001394543.1:p.Val739Leu
- NP_001394544.1:p.Val739Leu
- NP_001394545.1:p.Val740Leu
- NP_001394546.1:p.Val740Leu
- NP_001394547.1:p.Val740Leu
- NP_001394548.1:p.Val740Leu
- NP_001394549.1:p.Val740Leu
- NP_001394550.1:p.Val740Leu
- NP_001394551.1:p.Val740Leu
- NP_001394552.1:p.Val740Leu
- NP_001394553.1:p.Val740Leu
- NP_001394554.1:p.Val740Leu
- NP_001394555.1:p.Val740Leu
- NP_001394556.1:p.Val739Leu
- NP_001394557.1:p.Val739Leu
- NP_001394558.1:p.Val739Leu
- NP_001394559.1:p.Val739Leu
- NP_001394560.1:p.Val739Leu
- NP_001394561.1:p.Val739Leu
- NP_001394562.1:p.Val739Leu
- NP_001394563.1:p.Val739Leu
- NP_001394564.1:p.Val739Leu
- NP_001394565.1:p.Val739Leu
- NP_001394566.1:p.Val739Leu
- NP_001394567.1:p.Val739Leu
- NP_001394568.1:p.Val740Leu
- NP_001394569.1:p.Val740Leu
- NP_001394570.1:p.Val740Leu
- NP_001394571.1:p.Val740Leu
- NP_001394573.1:p.Val739Leu
- NP_001394574.1:p.Val739Leu
- NP_001394575.1:p.Val737Leu
- NP_001394576.1:p.Val737Leu
- NP_001394577.1:p.Val699Leu
- NP_001394578.1:p.Val698Leu
- NP_001394581.1:p.Val740Leu
- NP_001394582.1:p.Val714Leu
- NP_001394583.1:p.Val714Leu
- NP_001394584.1:p.Val714Leu
- NP_001394585.1:p.Val714Leu
- NP_001394586.1:p.Val714Leu
- NP_001394587.1:p.Val714Leu
- NP_001394588.1:p.Val713Leu
- NP_001394589.1:p.Val713Leu
- NP_001394590.1:p.Val713Leu
- NP_001394591.1:p.Val713Leu
- NP_001394592.1:p.Val714Leu
- NP_001394593.1:p.Val699Leu
- NP_001394594.1:p.Val699Leu
- NP_001394595.1:p.Val699Leu
- NP_001394596.1:p.Val699Leu
- NP_001394597.1:p.Val699Leu
- NP_001394598.1:p.Val699Leu
- NP_001394599.1:p.Val698Leu
- NP_001394600.1:p.Val698Leu
- NP_001394601.1:p.Val698Leu
- NP_001394602.1:p.Val698Leu
- NP_001394603.1:p.Val699Leu
- NP_001394604.1:p.Val699Leu
- NP_001394605.1:p.Val699Leu
- NP_001394606.1:p.Val699Leu
- NP_001394607.1:p.Val699Leu
- NP_001394608.1:p.Val699Leu
- NP_001394609.1:p.Val699Leu
- NP_001394610.1:p.Val699Leu
- NP_001394611.1:p.Val699Leu
- NP_001394612.1:p.Val699Leu
- NP_001394613.1:p.Val740Leu
- NP_001394614.1:p.Val698Leu
- NP_001394615.1:p.Val698Leu
- NP_001394616.1:p.Val698Leu
- NP_001394617.1:p.Val698Leu
- NP_001394618.1:p.Val698Leu
- NP_001394619.1:p.Val698Leu
- NP_001394620.1:p.Val698Leu
- NP_001394621.1:p.Val693Leu
- NP_001394623.1:p.Val693Leu
- NP_001394624.1:p.Val693Leu
- NP_001394625.1:p.Val693Leu
- NP_001394626.1:p.Val693Leu
- NP_001394627.1:p.Val693Leu
- NP_001394653.1:p.Val693Leu
- NP_001394654.1:p.Val693Leu
- NP_001394655.1:p.Val693Leu
- NP_001394656.1:p.Val693Leu
- NP_001394657.1:p.Val693Leu
- NP_001394658.1:p.Val693Leu
- NP_001394659.1:p.Val693Leu
- NP_001394660.1:p.Val693Leu
- NP_001394661.1:p.Val693Leu
- NP_001394662.1:p.Val693Leu
- NP_001394663.1:p.Val693Leu
- NP_001394664.1:p.Val693Leu
- NP_001394665.1:p.Val693Leu
- NP_001394666.1:p.Val693Leu
- NP_001394667.1:p.Val693Leu
- NP_001394668.1:p.Val693Leu
- NP_001394669.1:p.Val692Leu
- NP_001394670.1:p.Val692Leu
- NP_001394671.1:p.Val692Leu
- NP_001394672.1:p.Val692Leu
- NP_001394673.1:p.Val692Leu
- NP_001394674.1:p.Val692Leu
- NP_001394675.1:p.Val692Leu
- NP_001394676.1:p.Val692Leu
- NP_001394677.1:p.Val692Leu
- NP_001394678.1:p.Val692Leu
- NP_001394679.1:p.Val693Leu
- NP_001394680.1:p.Val693Leu
- NP_001394681.1:p.Val693Leu
- NP_001394767.1:p.Val692Leu
- NP_001394768.1:p.Val692Leu
- NP_001394770.1:p.Val692Leu
- NP_001394771.1:p.Val692Leu
- NP_001394772.1:p.Val692Leu
- NP_001394773.1:p.Val692Leu
- NP_001394774.1:p.Val692Leu
- NP_001394775.1:p.Val692Leu
- NP_001394776.1:p.Val692Leu
- NP_001394777.1:p.Val692Leu
- NP_001394778.1:p.Val692Leu
- NP_001394779.1:p.Val693Leu
- NP_001394780.1:p.Val693Leu
- NP_001394781.1:p.Val693Leu
- NP_001394782.1:p.Val669Leu
- NP_001394783.1:p.Val740Leu
- NP_001394787.1:p.Val740Leu
- NP_001394788.1:p.Val740Leu
- NP_001394789.1:p.Val739Leu
- NP_001394790.1:p.Val739Leu
- NP_001394791.1:p.Val673Leu
- NP_001394792.1:p.Val699Leu
- NP_001394803.1:p.Val672Leu
- NP_001394804.1:p.Val672Leu
- NP_001394808.1:p.Val670Leu
- NP_001394810.1:p.Val670Leu
- NP_001394811.1:p.Val670Leu
- NP_001394813.1:p.Val670Leu
- NP_001394814.1:p.Val670Leu
- NP_001394815.1:p.Val670Leu
- NP_001394816.1:p.Val670Leu
- NP_001394818.1:p.Val670Leu
- NP_001394823.1:p.Val669Leu
- NP_001394824.1:p.Val669Leu
- NP_001394825.1:p.Val669Leu
- NP_001394826.1:p.Val669Leu
- NP_001394827.1:p.Val669Leu
- NP_001394828.1:p.Val669Leu
- NP_001394829.1:p.Val670Leu
- NP_001394831.1:p.Val670Leu
- NP_001394833.1:p.Val670Leu
- NP_001394835.1:p.Val670Leu
- NP_001394836.1:p.Val670Leu
- NP_001394837.1:p.Val670Leu
- NP_001394838.1:p.Val670Leu
- NP_001394839.1:p.Val670Leu
- NP_001394844.1:p.Val669Leu
- NP_001394845.1:p.Val669Leu
- NP_001394846.1:p.Val669Leu
- NP_001394847.1:p.Val669Leu
- NP_001394848.1:p.Val699Leu
- NP_001394849.1:p.Val652Leu
- NP_001394850.1:p.Val652Leu
- NP_001394851.1:p.Val652Leu
- NP_001394852.1:p.Val652Leu
- NP_001394853.1:p.Val652Leu
- NP_001394854.1:p.Val652Leu
- NP_001394855.1:p.Val652Leu
- NP_001394856.1:p.Val652Leu
- NP_001394857.1:p.Val652Leu
- NP_001394858.1:p.Val652Leu
- NP_001394859.1:p.Val651Leu
- NP_001394860.1:p.Val651Leu
- NP_001394861.1:p.Val651Leu
- NP_001394862.1:p.Val652Leu
- NP_001394863.1:p.Val651Leu
- NP_001394864.1:p.Val652Leu
- NP_001394865.1:p.Val651Leu
- NP_001394866.1:p.Val699Leu
- NP_001394867.1:p.Val699Leu
- NP_001394868.1:p.Val699Leu
- NP_001394869.1:p.Val698Leu
- NP_001394870.1:p.Val698Leu
- NP_001394871.1:p.Val693Leu
- NP_001394872.1:p.Val692Leu
- NP_001394873.1:p.Val693Leu
- NP_001394874.1:p.Val693Leu
- NP_001394875.1:p.Val629Leu
- NP_001394876.1:p.Val629Leu
- NP_001394877.1:p.Val629Leu
- NP_001394878.1:p.Val629Leu
- NP_001394879.1:p.Val629Leu
- NP_001394880.1:p.Val629Leu
- NP_001394881.1:p.Val629Leu
- NP_001394882.1:p.Val629Leu
- NP_001394883.1:p.Val628Leu
- NP_001394884.1:p.Val628Leu
- NP_001394885.1:p.Val628Leu
- NP_001394886.1:p.Val629Leu
- NP_001394887.1:p.Val628Leu
- NP_001394888.1:p.Val613Leu
- NP_001394889.1:p.Val613Leu
- NP_001394891.1:p.Val612Leu
- NP_001394892.1:p.Val613Leu
- NP_001394893.1:p.Val692Leu
- NP_001394894.1:p.Val572Leu
- NP_001394895.1:p.Val444Leu
- NP_001394896.1:p.Val444Leu
- NP_009225.1:p.Val740Leu
- NP_009225.1:p.Val740Leu
- NP_009228.2:p.Val693Leu
- NP_009231.2:p.Val740Leu
- LRG_292t1:c.2218G>T
- LRG_292:g.124671G>T
- LRG_292p1:p.Val740Leu
- NC_000017.10:g.41245330C>A
- NM_007294.3:c.2218G>T
- NR_027676.1:n.2354G>T
- p.V740L
This HGVS expression did not pass validation- Protein change:
- V444L
- Links:
- dbSNP: rs80357415
- NCBI 1000 Genomes Browser:
- rs80357415
- Molecular consequence:
- NM_001407968.1:c.788-1174G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-1174G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.790+1428G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.778+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.709+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.709+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.709+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.706+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.709+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.709+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.706+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.661+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.661+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.661+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.661+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.664+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.661+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.661+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.661+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.661+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.661+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.652+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.643+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.643+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.643+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.643+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.643+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.646+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.643+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.784+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.586+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.583+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.586+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.574+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.574+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.574+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.523+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.523+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.523+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.523+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.523+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.523+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.454+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.520+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.520+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.520+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.451+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.451+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.406+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-2281G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.283+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.577+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.787+1431G>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.2209G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.2209G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.2140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.2140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.2140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.2140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.2140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.2140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.2137G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.2137G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.2137G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.2137G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.2140G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.2215G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.2017G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.2014G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.2014G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.2008G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.2005G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.1951G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.1951G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.1951G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.1951G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.1954G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.1951G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.2092G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.1882G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.1882G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.1882G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.1882G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.1837G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.1837G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.1834G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.1837G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.2074G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.1714G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.1330G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.1330G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.2077G>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.2218G>T - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000215604 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Jun 1, 2023) | germline | clinical testing | |
SCV003847845 | University of Washington Department of Laboratory Medicine, University of Washington | criteria provided, single submitter (Dines et al. (Genet Med. 2020)) | Likely benign (Mar 23, 2023) | germline | curation |
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, curation |
Citations
PubMed
Russo A, Calò V, Agnese V, Bruno L, Corsale S, Augello C, Gargano G, Barbera F, Cascio S, Intrivici C, Rinaldi G, Gulotta G, Macaluso M, Surmacz E, Giordano A, Gebbia N, Bazan V.
Breast Cancer Res Treat. 2007 Nov;105(3):267-76. Epub 2007 Jan 13.
- PMID:
- 17221156
[Plasma prolactin and cancer].
Ruibal A.
Rev Esp Oncol. 1980;27(3):523-6. Spanish. No abstract available.
- PMID:
- 7221156
Details of each submission
From Ambry Genetics, SCV000215604.8
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
Description
The p.V740L variant (also known as c.2218G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2218. The valine at codon 740 is replaced by leucine, an amino acid with highly similar properties. A similar alteration, c.2218G>C, leading to the same amino acid change (p.V740L) has been reported in 1/650 Sicilian breast and/or ovarian cancer patients (Russo A et al. Breast Cancer Res. Treat., 2007 Nov;105:267-76). This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | 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 University of Washington Department of Laboratory Medicine, University of Washington, SCV003847845.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
# | 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: Oct 8, 2024