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NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu) AND not provided

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Sep 8, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001811336.16

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001473446ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Sep 8, 2023) 		germlineclinical testing

Citation Link,

SCV003930941GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 7, 2023) 		germlineclinical testing

Citation Link,

SCV004222591Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Oct 4, 2022) 		unknownclinical 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
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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

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
See all PubMed Citations (3)

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473446.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA1 c.2218G>C; p.Val740Leu variant (rs80357415) is reported in the literature in at least two individuals affected with breast cancer (Russo 2007, Fanale 2021). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.338). Due to limited information, the clinical significance of the p.Val740Leu variant is uncertain at this time. References: Fanale D et al. Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome. Front Oncol. 2021 Jun 11;11:682445. PMID: 34178674 Russo A et al. BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses. Breast Cancer Res Treat. 2007 Nov;105(3):267-76. PMID: 17221156

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

From GeneDx, SCV003930941.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed in individuals with breast cancer (Russo et al., 2007; Fanale et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 2337G>C; This variant is associated with the following publications: (PMID: 25011685, 34178674, 15343273, 31853058, 29884841, 17221156)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004222591.1

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

Description

It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast cancer (PMIDs: 34178674 (2021), 17221156 (2007)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Oct 13, 2024