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NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 26, 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:
RCV000111798.12

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]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000144343Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(May 29, 2002) 		germlineclinical testing

SCV004818215All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Jun 26, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided108544not providedclinical testing
not providedgermlineyes1not 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. doi: 10.3389/fonc.2022.920342.

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

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144343.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004818215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

This missense variant replaces valine with leucine at codon 740 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least one individual affected with breast cancer (PMID: 17221156, 34178674). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024