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NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 16, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000047765.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu)]

NM_007294.4(BRCA1):c.2218G>C (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>C (p.Val740Leu)
HGVS:
  • NC_000017.11:g.43093313C>G
  • NG_005905.2:g.124671G>C
  • NM_001407571.1:c.2005G>C
  • NM_001407581.1:c.2218G>C
  • NM_001407582.1:c.2218G>C
  • NM_001407583.1:c.2218G>C
  • NM_001407585.1:c.2218G>C
  • NM_001407587.1:c.2215G>C
  • NM_001407590.1:c.2215G>C
  • NM_001407591.1:c.2215G>C
  • NM_001407593.1:c.2218G>C
  • NM_001407594.1:c.2218G>C
  • NM_001407596.1:c.2218G>C
  • NM_001407597.1:c.2218G>C
  • NM_001407598.1:c.2218G>C
  • NM_001407602.1:c.2218G>C
  • NM_001407603.1:c.2218G>C
  • NM_001407605.1:c.2218G>C
  • NM_001407610.1:c.2215G>C
  • NM_001407611.1:c.2215G>C
  • NM_001407612.1:c.2215G>C
  • NM_001407613.1:c.2215G>C
  • NM_001407614.1:c.2215G>C
  • NM_001407615.1:c.2215G>C
  • NM_001407616.1:c.2218G>C
  • NM_001407617.1:c.2218G>C
  • NM_001407618.1:c.2218G>C
  • NM_001407619.1:c.2218G>C
  • NM_001407620.1:c.2218G>C
  • NM_001407621.1:c.2218G>C
  • NM_001407622.1:c.2218G>C
  • NM_001407623.1:c.2218G>C
  • NM_001407624.1:c.2218G>C
  • NM_001407625.1:c.2218G>C
  • NM_001407626.1:c.2218G>C
  • NM_001407627.1:c.2215G>C
  • NM_001407628.1:c.2215G>C
  • NM_001407629.1:c.2215G>C
  • NM_001407630.1:c.2215G>C
  • NM_001407631.1:c.2215G>C
  • NM_001407632.1:c.2215G>C
  • NM_001407633.1:c.2215G>C
  • NM_001407634.1:c.2215G>C
  • NM_001407635.1:c.2215G>C
  • NM_001407636.1:c.2215G>C
  • NM_001407637.1:c.2215G>C
  • NM_001407638.1:c.2215G>C
  • NM_001407639.1:c.2218G>C
  • NM_001407640.1:c.2218G>C
  • NM_001407641.1:c.2218G>C
  • NM_001407642.1:c.2218G>C
  • NM_001407644.1:c.2215G>C
  • NM_001407645.1:c.2215G>C
  • NM_001407646.1:c.2209G>C
  • NM_001407647.1:c.2209G>C
  • NM_001407648.1:c.2095G>C
  • NM_001407649.1:c.2092G>C
  • NM_001407652.1:c.2218G>C
  • NM_001407653.1:c.2140G>C
  • NM_001407654.1:c.2140G>C
  • NM_001407655.1:c.2140G>C
  • NM_001407656.1:c.2140G>C
  • NM_001407657.1:c.2140G>C
  • NM_001407658.1:c.2140G>C
  • NM_001407659.1:c.2137G>C
  • NM_001407660.1:c.2137G>C
  • NM_001407661.1:c.2137G>C
  • NM_001407662.1:c.2137G>C
  • NM_001407663.1:c.2140G>C
  • NM_001407664.1:c.2095G>C
  • NM_001407665.1:c.2095G>C
  • NM_001407666.1:c.2095G>C
  • NM_001407667.1:c.2095G>C
  • NM_001407668.1:c.2095G>C
  • NM_001407669.1:c.2095G>C
  • NM_001407670.1:c.2092G>C
  • NM_001407671.1:c.2092G>C
  • NM_001407672.1:c.2092G>C
  • NM_001407673.1:c.2092G>C
  • NM_001407674.1:c.2095G>C
  • NM_001407675.1:c.2095G>C
  • NM_001407676.1:c.2095G>C
  • NM_001407677.1:c.2095G>C
  • NM_001407678.1:c.2095G>C
  • NM_001407679.1:c.2095G>C
  • NM_001407680.1:c.2095G>C
  • NM_001407681.1:c.2095G>C
  • NM_001407682.1:c.2095G>C
  • NM_001407683.1:c.2095G>C
  • NM_001407684.1:c.2218G>C
  • NM_001407685.1:c.2092G>C
  • NM_001407686.1:c.2092G>C
  • NM_001407687.1:c.2092G>C
  • NM_001407688.1:c.2092G>C
  • NM_001407689.1:c.2092G>C
  • NM_001407690.1:c.2092G>C
  • NM_001407691.1:c.2092G>C
  • NM_001407692.1:c.2077G>C
  • NM_001407694.1:c.2077G>C
  • NM_001407695.1:c.2077G>C
  • NM_001407696.1:c.2077G>C
  • NM_001407697.1:c.2077G>C
  • NM_001407698.1:c.2077G>C
  • NM_001407724.1:c.2077G>C
  • NM_001407725.1:c.2077G>C
  • NM_001407726.1:c.2077G>C
  • NM_001407727.1:c.2077G>C
  • NM_001407728.1:c.2077G>C
  • NM_001407729.1:c.2077G>C
  • NM_001407730.1:c.2077G>C
  • NM_001407731.1:c.2077G>C
  • NM_001407732.1:c.2077G>C
  • NM_001407733.1:c.2077G>C
  • NM_001407734.1:c.2077G>C
  • NM_001407735.1:c.2077G>C
  • NM_001407736.1:c.2077G>C
  • NM_001407737.1:c.2077G>C
  • NM_001407738.1:c.2077G>C
  • NM_001407739.1:c.2077G>C
  • NM_001407740.1:c.2074G>C
  • NM_001407741.1:c.2074G>C
  • NM_001407742.1:c.2074G>C
  • NM_001407743.1:c.2074G>C
  • NM_001407744.1:c.2074G>C
  • NM_001407745.1:c.2074G>C
  • NM_001407746.1:c.2074G>C
  • NM_001407747.1:c.2074G>C
  • NM_001407748.1:c.2074G>C
  • NM_001407749.1:c.2074G>C
  • NM_001407750.1:c.2077G>C
  • NM_001407751.1:c.2077G>C
  • NM_001407752.1:c.2077G>C
  • NM_001407838.1:c.2074G>C
  • NM_001407839.1:c.2074G>C
  • NM_001407841.1:c.2074G>C
  • NM_001407842.1:c.2074G>C
  • NM_001407843.1:c.2074G>C
  • NM_001407844.1:c.2074G>C
  • NM_001407845.1:c.2074G>C
  • NM_001407846.1:c.2074G>C
  • NM_001407847.1:c.2074G>C
  • NM_001407848.1:c.2074G>C
  • NM_001407849.1:c.2074G>C
  • NM_001407850.1:c.2077G>C
  • NM_001407851.1:c.2077G>C
  • NM_001407852.1:c.2077G>C
  • NM_001407853.1:c.2005G>C
  • NM_001407854.1:c.2218G>C
  • NM_001407858.1:c.2218G>C
  • NM_001407859.1:c.2218G>C
  • NM_001407860.1:c.2215G>C
  • NM_001407861.1:c.2215G>C
  • NM_001407862.1:c.2017G>C
  • NM_001407863.1:c.2095G>C
  • NM_001407874.1:c.2014G>C
  • NM_001407875.1:c.2014G>C
  • NM_001407879.1:c.2008G>C
  • NM_001407881.1:c.2008G>C
  • NM_001407882.1:c.2008G>C
  • NM_001407884.1:c.2008G>C
  • NM_001407885.1:c.2008G>C
  • NM_001407886.1:c.2008G>C
  • NM_001407887.1:c.2008G>C
  • NM_001407889.1:c.2008G>C
  • NM_001407894.1:c.2005G>C
  • NM_001407895.1:c.2005G>C
  • NM_001407896.1:c.2005G>C
  • NM_001407897.1:c.2005G>C
  • NM_001407898.1:c.2005G>C
  • NM_001407899.1:c.2005G>C
  • NM_001407900.1:c.2008G>C
  • NM_001407902.1:c.2008G>C
  • NM_001407904.1:c.2008G>C
  • NM_001407906.1:c.2008G>C
  • NM_001407907.1:c.2008G>C
  • NM_001407908.1:c.2008G>C
  • NM_001407909.1:c.2008G>C
  • NM_001407910.1:c.2008G>C
  • NM_001407915.1:c.2005G>C
  • NM_001407916.1:c.2005G>C
  • NM_001407917.1:c.2005G>C
  • NM_001407918.1:c.2005G>C
  • NM_001407919.1:c.2095G>C
  • NM_001407920.1:c.1954G>C
  • NM_001407921.1:c.1954G>C
  • NM_001407922.1:c.1954G>C
  • NM_001407923.1:c.1954G>C
  • NM_001407924.1:c.1954G>C
  • NM_001407925.1:c.1954G>C
  • NM_001407926.1:c.1954G>C
  • NM_001407927.1:c.1954G>C
  • NM_001407928.1:c.1954G>C
  • NM_001407929.1:c.1954G>C
  • NM_001407930.1:c.1951G>C
  • NM_001407931.1:c.1951G>C
  • NM_001407932.1:c.1951G>C
  • NM_001407933.1:c.1954G>C
  • NM_001407934.1:c.1951G>C
  • NM_001407935.1:c.1954G>C
  • NM_001407936.1:c.1951G>C
  • NM_001407937.1:c.2095G>C
  • NM_001407938.1:c.2095G>C
  • NM_001407939.1:c.2095G>C
  • NM_001407940.1:c.2092G>C
  • NM_001407941.1:c.2092G>C
  • NM_001407942.1:c.2077G>C
  • NM_001407943.1:c.2074G>C
  • NM_001407944.1:c.2077G>C
  • NM_001407945.1:c.2077G>C
  • NM_001407946.1:c.1885G>C
  • NM_001407947.1:c.1885G>C
  • NM_001407948.1:c.1885G>C
  • NM_001407949.1:c.1885G>C
  • NM_001407950.1:c.1885G>C
  • NM_001407951.1:c.1885G>C
  • NM_001407952.1:c.1885G>C
  • NM_001407953.1:c.1885G>C
  • NM_001407954.1:c.1882G>C
  • NM_001407955.1:c.1882G>C
  • NM_001407956.1:c.1882G>C
  • NM_001407957.1:c.1885G>C
  • NM_001407958.1:c.1882G>C
  • NM_001407959.1:c.1837G>C
  • NM_001407960.1:c.1837G>C
  • NM_001407962.1:c.1834G>C
  • NM_001407963.1:c.1837G>C
  • NM_001407964.1:c.2074G>C
  • NM_001407965.1:c.1714G>C
  • NM_001407966.1:c.1330G>C
  • NM_001407967.1:c.1330G>C
  • NM_001407968.1:c.788-1174G>C
  • NM_001407969.1:c.788-1174G>C
  • NM_001407970.1:c.787+1431G>C
  • NM_001407971.1:c.787+1431G>C
  • NM_001407972.1:c.784+1431G>C
  • NM_001407973.1:c.787+1431G>C
  • NM_001407974.1:c.787+1431G>C
  • NM_001407975.1:c.787+1431G>C
  • NM_001407976.1:c.787+1431G>C
  • NM_001407977.1:c.787+1431G>C
  • NM_001407978.1:c.787+1431G>C
  • NM_001407979.1:c.787+1431G>C
  • NM_001407980.1:c.787+1431G>C
  • NM_001407981.1:c.787+1431G>C
  • NM_001407982.1:c.787+1431G>C
  • NM_001407983.1:c.787+1431G>C
  • NM_001407984.1:c.784+1431G>C
  • NM_001407985.1:c.784+1431G>C
  • NM_001407986.1:c.784+1431G>C
  • NM_001407990.1:c.787+1431G>C
  • NM_001407991.1:c.784+1431G>C
  • NM_001407992.1:c.784+1431G>C
  • NM_001407993.1:c.787+1431G>C
  • NM_001408392.1:c.784+1431G>C
  • NM_001408396.1:c.784+1431G>C
  • NM_001408397.1:c.784+1431G>C
  • NM_001408398.1:c.784+1431G>C
  • NM_001408399.1:c.784+1431G>C
  • NM_001408400.1:c.784+1431G>C
  • NM_001408401.1:c.784+1431G>C
  • NM_001408402.1:c.784+1431G>C
  • NM_001408403.1:c.787+1431G>C
  • NM_001408404.1:c.787+1431G>C
  • NM_001408406.1:c.790+1428G>C
  • NM_001408407.1:c.784+1431G>C
  • NM_001408408.1:c.778+1431G>C
  • NM_001408409.1:c.709+1431G>C
  • NM_001408410.1:c.646+1431G>C
  • NM_001408411.1:c.709+1431G>C
  • NM_001408412.1:c.709+1431G>C
  • NM_001408413.1:c.706+1431G>C
  • NM_001408414.1:c.709+1431G>C
  • NM_001408415.1:c.709+1431G>C
  • NM_001408416.1:c.706+1431G>C
  • NM_001408418.1:c.671-2281G>C
  • NM_001408419.1:c.671-2281G>C
  • NM_001408420.1:c.671-2281G>C
  • NM_001408421.1:c.668-2281G>C
  • NM_001408422.1:c.671-2281G>C
  • NM_001408423.1:c.671-2281G>C
  • NM_001408424.1:c.668-2281G>C
  • NM_001408425.1:c.664+1431G>C
  • NM_001408426.1:c.664+1431G>C
  • NM_001408427.1:c.664+1431G>C
  • NM_001408428.1:c.664+1431G>C
  • NM_001408429.1:c.664+1431G>C
  • NM_001408430.1:c.664+1431G>C
  • NM_001408431.1:c.668-2281G>C
  • NM_001408432.1:c.661+1431G>C
  • NM_001408433.1:c.661+1431G>C
  • NM_001408434.1:c.661+1431G>C
  • NM_001408435.1:c.661+1431G>C
  • NM_001408436.1:c.664+1431G>C
  • NM_001408437.1:c.664+1431G>C
  • NM_001408438.1:c.664+1431G>C
  • NM_001408439.1:c.664+1431G>C
  • NM_001408440.1:c.664+1431G>C
  • NM_001408441.1:c.664+1431G>C
  • NM_001408442.1:c.664+1431G>C
  • NM_001408443.1:c.664+1431G>C
  • NM_001408444.1:c.664+1431G>C
  • NM_001408445.1:c.661+1431G>C
  • NM_001408446.1:c.661+1431G>C
  • NM_001408447.1:c.661+1431G>C
  • NM_001408448.1:c.661+1431G>C
  • NM_001408450.1:c.661+1431G>C
  • NM_001408451.1:c.652+1431G>C
  • NM_001408452.1:c.646+1431G>C
  • NM_001408453.1:c.646+1431G>C
  • NM_001408454.1:c.646+1431G>C
  • NM_001408455.1:c.646+1431G>C
  • NM_001408456.1:c.646+1431G>C
  • NM_001408457.1:c.646+1431G>C
  • NM_001408458.1:c.646+1431G>C
  • NM_001408459.1:c.646+1431G>C
  • NM_001408460.1:c.646+1431G>C
  • NM_001408461.1:c.646+1431G>C
  • NM_001408462.1:c.643+1431G>C
  • NM_001408463.1:c.643+1431G>C
  • NM_001408464.1:c.643+1431G>C
  • NM_001408465.1:c.643+1431G>C
  • NM_001408466.1:c.646+1431G>C
  • NM_001408467.1:c.646+1431G>C
  • NM_001408468.1:c.643+1431G>C
  • NM_001408469.1:c.646+1431G>C
  • NM_001408470.1:c.643+1431G>C
  • NM_001408472.1:c.787+1431G>C
  • NM_001408473.1:c.784+1431G>C
  • NM_001408474.1:c.586+1431G>C
  • NM_001408475.1:c.583+1431G>C
  • NM_001408476.1:c.586+1431G>C
  • NM_001408478.1:c.577+1431G>C
  • NM_001408479.1:c.577+1431G>C
  • NM_001408480.1:c.577+1431G>C
  • NM_001408481.1:c.577+1431G>C
  • NM_001408482.1:c.577+1431G>C
  • NM_001408483.1:c.577+1431G>C
  • NM_001408484.1:c.577+1431G>C
  • NM_001408485.1:c.577+1431G>C
  • NM_001408489.1:c.577+1431G>C
  • NM_001408490.1:c.574+1431G>C
  • NM_001408491.1:c.574+1431G>C
  • NM_001408492.1:c.577+1431G>C
  • NM_001408493.1:c.574+1431G>C
  • NM_001408494.1:c.548-2281G>C
  • NM_001408495.1:c.545-2281G>C
  • NM_001408496.1:c.523+1431G>C
  • NM_001408497.1:c.523+1431G>C
  • NM_001408498.1:c.523+1431G>C
  • NM_001408499.1:c.523+1431G>C
  • NM_001408500.1:c.523+1431G>C
  • NM_001408501.1:c.523+1431G>C
  • NM_001408502.1:c.454+1431G>C
  • NM_001408503.1:c.520+1431G>C
  • NM_001408504.1:c.520+1431G>C
  • NM_001408505.1:c.520+1431G>C
  • NM_001408506.1:c.461-2281G>C
  • NM_001408507.1:c.461-2281G>C
  • NM_001408508.1:c.451+1431G>C
  • NM_001408509.1:c.451+1431G>C
  • NM_001408510.1:c.406+1431G>C
  • NM_001408511.1:c.404-2281G>C
  • NM_001408512.1:c.283+1431G>C
  • NM_001408513.1:c.577+1431G>C
  • NM_001408514.1:c.577+1431G>C
  • NM_007294.4:c.2218G>CMANE SELECT
  • NM_007297.4:c.2077G>C
  • NM_007298.4:c.787+1431G>C
  • NM_007299.4:c.787+1431G>C
  • NM_007300.4:c.2218G>C
  • 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>C
  • LRG_292:g.124671G>C
  • LRG_292p1:p.Val740Leu
  • NC_000017.10:g.41245330C>G
  • NM_007294.3:c.2218G>C
  • NR_027676.1:n.2354G>C
  • U14680.1:n.2337G>C
Protein change:
V444L
Links:
dbSNP: rs80357415
NCBI 1000 Genomes Browser:
rs80357415
Molecular consequence:
  • NM_001407968.1:c.788-1174G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1174G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1428G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2281G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1431G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2209G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2209G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2140G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2140G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2140G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2140G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2140G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2140G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2137G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2137G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2137G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2137G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2140G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2215G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2017G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2014G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2014G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1951G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1951G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1951G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1951G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1951G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2095G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1882G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1882G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1882G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1882G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1834G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2074G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1714G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1330G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2077G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2218G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000075778Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 16, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.

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.

PubMed [citation]
PMID:
17221156

Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.

Fanale D, Fiorino A, Incorvaia L, Dimino A, Filorizzo C, Bono M, Cancelliere D, Calò V, Brando C, Corsini LR, Sciacchitano R, Magrin L, Pivetti A, Pedone E, Madonia G, Cucinella A, Badalamenti G, Russo A, Bazan V.

Front Oncol. 2021;11:682445. doi: 10.3389/fonc.2021.682445. Erratum in: Front Oncol. 2022 May 04;12:920342.

PubMed [citation]
PMID:
34178674
PMCID:
PMC8226162
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000075778.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 54505). This missense change has been observed in individual(s) with breast cancer (PMID: 17221156, 34178674). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 740 of the BRCA1 protein (p.Val740Leu).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024