NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jan 16, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000219459.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys)]

NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys)

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.1394A>G (p.Tyr465Cys)

HGVS:

NC_000017.11:g.43094137T>C
NG_005905.2:g.123847A>G
NM_001407571.1:c.1181A>G
NM_001407581.1:c.1394A>G
NM_001407582.1:c.1394A>G
NM_001407583.1:c.1394A>G
NM_001407585.1:c.1394A>G
NM_001407587.1:c.1391A>G
NM_001407590.1:c.1391A>G
NM_001407591.1:c.1391A>G
NM_001407593.1:c.1394A>G
NM_001407594.1:c.1394A>G
NM_001407596.1:c.1394A>G
NM_001407597.1:c.1394A>G
NM_001407598.1:c.1394A>G
NM_001407602.1:c.1394A>G
NM_001407603.1:c.1394A>G
NM_001407605.1:c.1394A>G
NM_001407610.1:c.1391A>G
NM_001407611.1:c.1391A>G
NM_001407612.1:c.1391A>G
NM_001407613.1:c.1391A>G
NM_001407614.1:c.1391A>G
NM_001407615.1:c.1391A>G
NM_001407616.1:c.1394A>G
NM_001407617.1:c.1394A>G
NM_001407618.1:c.1394A>G
NM_001407619.1:c.1394A>G
NM_001407620.1:c.1394A>G
NM_001407621.1:c.1394A>G
NM_001407622.1:c.1394A>G
NM_001407623.1:c.1394A>G
NM_001407624.1:c.1394A>G
NM_001407625.1:c.1394A>G
NM_001407626.1:c.1394A>G
NM_001407627.1:c.1391A>G
NM_001407628.1:c.1391A>G
NM_001407629.1:c.1391A>G
NM_001407630.1:c.1391A>G
NM_001407631.1:c.1391A>G
NM_001407632.1:c.1391A>G
NM_001407633.1:c.1391A>G
NM_001407634.1:c.1391A>G
NM_001407635.1:c.1391A>G
NM_001407636.1:c.1391A>G
NM_001407637.1:c.1391A>G
NM_001407638.1:c.1391A>G
NM_001407639.1:c.1394A>G
NM_001407640.1:c.1394A>G
NM_001407641.1:c.1394A>G
NM_001407642.1:c.1394A>G
NM_001407644.1:c.1391A>G
NM_001407645.1:c.1391A>G
NM_001407646.1:c.1385A>G
NM_001407647.1:c.1385A>G
NM_001407648.1:c.1271A>G
NM_001407649.1:c.1268A>G
NM_001407652.1:c.1394A>G
NM_001407653.1:c.1316A>G
NM_001407654.1:c.1316A>G
NM_001407655.1:c.1316A>G
NM_001407656.1:c.1316A>G
NM_001407657.1:c.1316A>G
NM_001407658.1:c.1316A>G
NM_001407659.1:c.1313A>G
NM_001407660.1:c.1313A>G
NM_001407661.1:c.1313A>G
NM_001407662.1:c.1313A>G
NM_001407663.1:c.1316A>G
NM_001407664.1:c.1271A>G
NM_001407665.1:c.1271A>G
NM_001407666.1:c.1271A>G
NM_001407667.1:c.1271A>G
NM_001407668.1:c.1271A>G
NM_001407669.1:c.1271A>G
NM_001407670.1:c.1268A>G
NM_001407671.1:c.1268A>G
NM_001407672.1:c.1268A>G
NM_001407673.1:c.1268A>G
NM_001407674.1:c.1271A>G
NM_001407675.1:c.1271A>G
NM_001407676.1:c.1271A>G
NM_001407677.1:c.1271A>G
NM_001407678.1:c.1271A>G
NM_001407679.1:c.1271A>G
NM_001407680.1:c.1271A>G
NM_001407681.1:c.1271A>G
NM_001407682.1:c.1271A>G
NM_001407683.1:c.1271A>G
NM_001407684.1:c.1394A>G
NM_001407685.1:c.1268A>G
NM_001407686.1:c.1268A>G
NM_001407687.1:c.1268A>G
NM_001407688.1:c.1268A>G
NM_001407689.1:c.1268A>G
NM_001407690.1:c.1268A>G
NM_001407691.1:c.1268A>G
NM_001407692.1:c.1253A>G
NM_001407694.1:c.1253A>G
NM_001407695.1:c.1253A>G
NM_001407696.1:c.1253A>G
NM_001407697.1:c.1253A>G
NM_001407698.1:c.1253A>G
NM_001407724.1:c.1253A>G
NM_001407725.1:c.1253A>G
NM_001407726.1:c.1253A>G
NM_001407727.1:c.1253A>G
NM_001407728.1:c.1253A>G
NM_001407729.1:c.1253A>G
NM_001407730.1:c.1253A>G
NM_001407731.1:c.1253A>G
NM_001407732.1:c.1253A>G
NM_001407733.1:c.1253A>G
NM_001407734.1:c.1253A>G
NM_001407735.1:c.1253A>G
NM_001407736.1:c.1253A>G
NM_001407737.1:c.1253A>G
NM_001407738.1:c.1253A>G
NM_001407739.1:c.1253A>G
NM_001407740.1:c.1250A>G
NM_001407741.1:c.1250A>G
NM_001407742.1:c.1250A>G
NM_001407743.1:c.1250A>G
NM_001407744.1:c.1250A>G
NM_001407745.1:c.1250A>G
NM_001407746.1:c.1250A>G
NM_001407747.1:c.1250A>G
NM_001407748.1:c.1250A>G
NM_001407749.1:c.1250A>G
NM_001407750.1:c.1253A>G
NM_001407751.1:c.1253A>G
NM_001407752.1:c.1253A>G
NM_001407838.1:c.1250A>G
NM_001407839.1:c.1250A>G
NM_001407841.1:c.1250A>G
NM_001407842.1:c.1250A>G
NM_001407843.1:c.1250A>G
NM_001407844.1:c.1250A>G
NM_001407845.1:c.1250A>G
NM_001407846.1:c.1250A>G
NM_001407847.1:c.1250A>G
NM_001407848.1:c.1250A>G
NM_001407849.1:c.1250A>G
NM_001407850.1:c.1253A>G
NM_001407851.1:c.1253A>G
NM_001407852.1:c.1253A>G
NM_001407853.1:c.1181A>G
NM_001407854.1:c.1394A>G
NM_001407858.1:c.1394A>G
NM_001407859.1:c.1394A>G
NM_001407860.1:c.1391A>G
NM_001407861.1:c.1391A>G
NM_001407862.1:c.1193A>G
NM_001407863.1:c.1271A>G
NM_001407874.1:c.1190A>G
NM_001407875.1:c.1190A>G
NM_001407879.1:c.1184A>G
NM_001407881.1:c.1184A>G
NM_001407882.1:c.1184A>G
NM_001407884.1:c.1184A>G
NM_001407885.1:c.1184A>G
NM_001407886.1:c.1184A>G
NM_001407887.1:c.1184A>G
NM_001407889.1:c.1184A>G
NM_001407894.1:c.1181A>G
NM_001407895.1:c.1181A>G
NM_001407896.1:c.1181A>G
NM_001407897.1:c.1181A>G
NM_001407898.1:c.1181A>G
NM_001407899.1:c.1181A>G
NM_001407900.1:c.1184A>G
NM_001407902.1:c.1184A>G
NM_001407904.1:c.1184A>G
NM_001407906.1:c.1184A>G
NM_001407907.1:c.1184A>G
NM_001407908.1:c.1184A>G
NM_001407909.1:c.1184A>G
NM_001407910.1:c.1184A>G
NM_001407915.1:c.1181A>G
NM_001407916.1:c.1181A>G
NM_001407917.1:c.1181A>G
NM_001407918.1:c.1181A>G
NM_001407919.1:c.1271A>G
NM_001407920.1:c.1130A>G
NM_001407921.1:c.1130A>G
NM_001407922.1:c.1130A>G
NM_001407923.1:c.1130A>G
NM_001407924.1:c.1130A>G
NM_001407925.1:c.1130A>G
NM_001407926.1:c.1130A>G
NM_001407927.1:c.1130A>G
NM_001407928.1:c.1130A>G
NM_001407929.1:c.1130A>G
NM_001407930.1:c.1127A>G
NM_001407931.1:c.1127A>G
NM_001407932.1:c.1127A>G
NM_001407933.1:c.1130A>G
NM_001407934.1:c.1127A>G
NM_001407935.1:c.1130A>G
NM_001407936.1:c.1127A>G
NM_001407937.1:c.1271A>G
NM_001407938.1:c.1271A>G
NM_001407939.1:c.1271A>G
NM_001407940.1:c.1268A>G
NM_001407941.1:c.1268A>G
NM_001407942.1:c.1253A>G
NM_001407943.1:c.1250A>G
NM_001407944.1:c.1253A>G
NM_001407945.1:c.1253A>G
NM_001407946.1:c.1061A>G
NM_001407947.1:c.1061A>G
NM_001407948.1:c.1061A>G
NM_001407949.1:c.1061A>G
NM_001407950.1:c.1061A>G
NM_001407951.1:c.1061A>G
NM_001407952.1:c.1061A>G
NM_001407953.1:c.1061A>G
NM_001407954.1:c.1058A>G
NM_001407955.1:c.1058A>G
NM_001407956.1:c.1058A>G
NM_001407957.1:c.1061A>G
NM_001407958.1:c.1058A>G
NM_001407959.1:c.1013A>G
NM_001407960.1:c.1013A>G
NM_001407962.1:c.1010A>G
NM_001407963.1:c.1013A>G
NM_001407964.1:c.1250A>G
NM_001407965.1:c.890A>G
NM_001407966.1:c.506A>G
NM_001407967.1:c.506A>G
NM_001407968.1:c.787+607A>G
NM_001407969.1:c.787+607A>G
NM_001407970.1:c.787+607A>G
NM_001407971.1:c.787+607A>G
NM_001407972.1:c.784+607A>G
NM_001407973.1:c.787+607A>G
NM_001407974.1:c.787+607A>G
NM_001407975.1:c.787+607A>G
NM_001407976.1:c.787+607A>G
NM_001407977.1:c.787+607A>G
NM_001407978.1:c.787+607A>G
NM_001407979.1:c.787+607A>G
NM_001407980.1:c.787+607A>G
NM_001407981.1:c.787+607A>G
NM_001407982.1:c.787+607A>G
NM_001407983.1:c.787+607A>G
NM_001407984.1:c.784+607A>G
NM_001407985.1:c.784+607A>G
NM_001407986.1:c.784+607A>G
NM_001407990.1:c.787+607A>G
NM_001407991.1:c.784+607A>G
NM_001407992.1:c.784+607A>G
NM_001407993.1:c.787+607A>G
NM_001408392.1:c.784+607A>G
NM_001408396.1:c.784+607A>G
NM_001408397.1:c.784+607A>G
NM_001408398.1:c.784+607A>G
NM_001408399.1:c.784+607A>G
NM_001408400.1:c.784+607A>G
NM_001408401.1:c.784+607A>G
NM_001408402.1:c.784+607A>G
NM_001408403.1:c.787+607A>G
NM_001408404.1:c.787+607A>G
NM_001408406.1:c.790+604A>G
NM_001408407.1:c.784+607A>G
NM_001408408.1:c.778+607A>G
NM_001408409.1:c.709+607A>G
NM_001408410.1:c.646+607A>G
NM_001408411.1:c.709+607A>G
NM_001408412.1:c.709+607A>G
NM_001408413.1:c.706+607A>G
NM_001408414.1:c.709+607A>G
NM_001408415.1:c.709+607A>G
NM_001408416.1:c.706+607A>G
NM_001408418.1:c.670+1709A>G
NM_001408419.1:c.670+1709A>G
NM_001408420.1:c.670+1709A>G
NM_001408421.1:c.667+1709A>G
NM_001408422.1:c.670+1709A>G
NM_001408423.1:c.670+1709A>G
NM_001408424.1:c.667+1709A>G
NM_001408425.1:c.664+607A>G
NM_001408426.1:c.664+607A>G
NM_001408427.1:c.664+607A>G
NM_001408428.1:c.664+607A>G
NM_001408429.1:c.664+607A>G
NM_001408430.1:c.664+607A>G
NM_001408431.1:c.667+1709A>G
NM_001408432.1:c.661+607A>G
NM_001408433.1:c.661+607A>G
NM_001408434.1:c.661+607A>G
NM_001408435.1:c.661+607A>G
NM_001408436.1:c.664+607A>G
NM_001408437.1:c.664+607A>G
NM_001408438.1:c.664+607A>G
NM_001408439.1:c.664+607A>G
NM_001408440.1:c.664+607A>G
NM_001408441.1:c.664+607A>G
NM_001408442.1:c.664+607A>G
NM_001408443.1:c.664+607A>G
NM_001408444.1:c.664+607A>G
NM_001408445.1:c.661+607A>G
NM_001408446.1:c.661+607A>G
NM_001408447.1:c.661+607A>G
NM_001408448.1:c.661+607A>G
NM_001408450.1:c.661+607A>G
NM_001408451.1:c.652+607A>G
NM_001408452.1:c.646+607A>G
NM_001408453.1:c.646+607A>G
NM_001408454.1:c.646+607A>G
NM_001408455.1:c.646+607A>G
NM_001408456.1:c.646+607A>G
NM_001408457.1:c.646+607A>G
NM_001408458.1:c.646+607A>G
NM_001408459.1:c.646+607A>G
NM_001408460.1:c.646+607A>G
NM_001408461.1:c.646+607A>G
NM_001408462.1:c.643+607A>G
NM_001408463.1:c.643+607A>G
NM_001408464.1:c.643+607A>G
NM_001408465.1:c.643+607A>G
NM_001408466.1:c.646+607A>G
NM_001408467.1:c.646+607A>G
NM_001408468.1:c.643+607A>G
NM_001408469.1:c.646+607A>G
NM_001408470.1:c.643+607A>G
NM_001408472.1:c.787+607A>G
NM_001408473.1:c.784+607A>G
NM_001408474.1:c.586+607A>G
NM_001408475.1:c.583+607A>G
NM_001408476.1:c.586+607A>G
NM_001408478.1:c.577+607A>G
NM_001408479.1:c.577+607A>G
NM_001408480.1:c.577+607A>G
NM_001408481.1:c.577+607A>G
NM_001408482.1:c.577+607A>G
NM_001408483.1:c.577+607A>G
NM_001408484.1:c.577+607A>G
NM_001408485.1:c.577+607A>G
NM_001408489.1:c.577+607A>G
NM_001408490.1:c.574+607A>G
NM_001408491.1:c.574+607A>G
NM_001408492.1:c.577+607A>G
NM_001408493.1:c.574+607A>G
NM_001408494.1:c.548-3105A>G
NM_001408495.1:c.545-3105A>G
NM_001408496.1:c.523+607A>G
NM_001408497.1:c.523+607A>G
NM_001408498.1:c.523+607A>G
NM_001408499.1:c.523+607A>G
NM_001408500.1:c.523+607A>G
NM_001408501.1:c.523+607A>G
NM_001408502.1:c.454+607A>G
NM_001408503.1:c.520+607A>G
NM_001408504.1:c.520+607A>G
NM_001408505.1:c.520+607A>G
NM_001408506.1:c.460+1709A>G
NM_001408507.1:c.460+1709A>G
NM_001408508.1:c.451+607A>G
NM_001408509.1:c.451+607A>G
NM_001408510.1:c.406+607A>G
NM_001408511.1:c.404-3105A>G
NM_001408512.1:c.283+607A>G
NM_001408513.1:c.577+607A>G
NM_001408514.1:c.577+607A>G
NM_007294.4:c.1394A>GMANE SELECT
NM_007297.4:c.1253A>G
NM_007298.4:c.787+607A>G
NM_007299.4:c.787+607A>G
NM_007300.4:c.1394A>G
NP_001394500.1:p.Tyr394Cys
NP_001394510.1:p.Tyr465Cys
NP_001394511.1:p.Tyr465Cys
NP_001394512.1:p.Tyr465Cys
NP_001394514.1:p.Tyr465Cys
NP_001394516.1:p.Tyr464Cys
NP_001394519.1:p.Tyr464Cys
NP_001394520.1:p.Tyr464Cys
NP_001394522.1:p.Tyr465Cys
NP_001394523.1:p.Tyr465Cys
NP_001394525.1:p.Tyr465Cys
NP_001394526.1:p.Tyr465Cys
NP_001394527.1:p.Tyr465Cys
NP_001394531.1:p.Tyr465Cys
NP_001394532.1:p.Tyr465Cys
NP_001394534.1:p.Tyr465Cys
NP_001394539.1:p.Tyr464Cys
NP_001394540.1:p.Tyr464Cys
NP_001394541.1:p.Tyr464Cys
NP_001394542.1:p.Tyr464Cys
NP_001394543.1:p.Tyr464Cys
NP_001394544.1:p.Tyr464Cys
NP_001394545.1:p.Tyr465Cys
NP_001394546.1:p.Tyr465Cys
NP_001394547.1:p.Tyr465Cys
NP_001394548.1:p.Tyr465Cys
NP_001394549.1:p.Tyr465Cys
NP_001394550.1:p.Tyr465Cys
NP_001394551.1:p.Tyr465Cys
NP_001394552.1:p.Tyr465Cys
NP_001394553.1:p.Tyr465Cys
NP_001394554.1:p.Tyr465Cys
NP_001394555.1:p.Tyr465Cys
NP_001394556.1:p.Tyr464Cys
NP_001394557.1:p.Tyr464Cys
NP_001394558.1:p.Tyr464Cys
NP_001394559.1:p.Tyr464Cys
NP_001394560.1:p.Tyr464Cys
NP_001394561.1:p.Tyr464Cys
NP_001394562.1:p.Tyr464Cys
NP_001394563.1:p.Tyr464Cys
NP_001394564.1:p.Tyr464Cys
NP_001394565.1:p.Tyr464Cys
NP_001394566.1:p.Tyr464Cys
NP_001394567.1:p.Tyr464Cys
NP_001394568.1:p.Tyr465Cys
NP_001394569.1:p.Tyr465Cys
NP_001394570.1:p.Tyr465Cys
NP_001394571.1:p.Tyr465Cys
NP_001394573.1:p.Tyr464Cys
NP_001394574.1:p.Tyr464Cys
NP_001394575.1:p.Tyr462Cys
NP_001394576.1:p.Tyr462Cys
NP_001394577.1:p.Tyr424Cys
NP_001394578.1:p.Tyr423Cys
NP_001394581.1:p.Tyr465Cys
NP_001394582.1:p.Tyr439Cys
NP_001394583.1:p.Tyr439Cys
NP_001394584.1:p.Tyr439Cys
NP_001394585.1:p.Tyr439Cys
NP_001394586.1:p.Tyr439Cys
NP_001394587.1:p.Tyr439Cys
NP_001394588.1:p.Tyr438Cys
NP_001394589.1:p.Tyr438Cys
NP_001394590.1:p.Tyr438Cys
NP_001394591.1:p.Tyr438Cys
NP_001394592.1:p.Tyr439Cys
NP_001394593.1:p.Tyr424Cys
NP_001394594.1:p.Tyr424Cys
NP_001394595.1:p.Tyr424Cys
NP_001394596.1:p.Tyr424Cys
NP_001394597.1:p.Tyr424Cys
NP_001394598.1:p.Tyr424Cys
NP_001394599.1:p.Tyr423Cys
NP_001394600.1:p.Tyr423Cys
NP_001394601.1:p.Tyr423Cys
NP_001394602.1:p.Tyr423Cys
NP_001394603.1:p.Tyr424Cys
NP_001394604.1:p.Tyr424Cys
NP_001394605.1:p.Tyr424Cys
NP_001394606.1:p.Tyr424Cys
NP_001394607.1:p.Tyr424Cys
NP_001394608.1:p.Tyr424Cys
NP_001394609.1:p.Tyr424Cys
NP_001394610.1:p.Tyr424Cys
NP_001394611.1:p.Tyr424Cys
NP_001394612.1:p.Tyr424Cys
NP_001394613.1:p.Tyr465Cys
NP_001394614.1:p.Tyr423Cys
NP_001394615.1:p.Tyr423Cys
NP_001394616.1:p.Tyr423Cys
NP_001394617.1:p.Tyr423Cys
NP_001394618.1:p.Tyr423Cys
NP_001394619.1:p.Tyr423Cys
NP_001394620.1:p.Tyr423Cys
NP_001394621.1:p.Tyr418Cys
NP_001394623.1:p.Tyr418Cys
NP_001394624.1:p.Tyr418Cys
NP_001394625.1:p.Tyr418Cys
NP_001394626.1:p.Tyr418Cys
NP_001394627.1:p.Tyr418Cys
NP_001394653.1:p.Tyr418Cys
NP_001394654.1:p.Tyr418Cys
NP_001394655.1:p.Tyr418Cys
NP_001394656.1:p.Tyr418Cys
NP_001394657.1:p.Tyr418Cys
NP_001394658.1:p.Tyr418Cys
NP_001394659.1:p.Tyr418Cys
NP_001394660.1:p.Tyr418Cys
NP_001394661.1:p.Tyr418Cys
NP_001394662.1:p.Tyr418Cys
NP_001394663.1:p.Tyr418Cys
NP_001394664.1:p.Tyr418Cys
NP_001394665.1:p.Tyr418Cys
NP_001394666.1:p.Tyr418Cys
NP_001394667.1:p.Tyr418Cys
NP_001394668.1:p.Tyr418Cys
NP_001394669.1:p.Tyr417Cys
NP_001394670.1:p.Tyr417Cys
NP_001394671.1:p.Tyr417Cys
NP_001394672.1:p.Tyr417Cys
NP_001394673.1:p.Tyr417Cys
NP_001394674.1:p.Tyr417Cys
NP_001394675.1:p.Tyr417Cys
NP_001394676.1:p.Tyr417Cys
NP_001394677.1:p.Tyr417Cys
NP_001394678.1:p.Tyr417Cys
NP_001394679.1:p.Tyr418Cys
NP_001394680.1:p.Tyr418Cys
NP_001394681.1:p.Tyr418Cys
NP_001394767.1:p.Tyr417Cys
NP_001394768.1:p.Tyr417Cys
NP_001394770.1:p.Tyr417Cys
NP_001394771.1:p.Tyr417Cys
NP_001394772.1:p.Tyr417Cys
NP_001394773.1:p.Tyr417Cys
NP_001394774.1:p.Tyr417Cys
NP_001394775.1:p.Tyr417Cys
NP_001394776.1:p.Tyr417Cys
NP_001394777.1:p.Tyr417Cys
NP_001394778.1:p.Tyr417Cys
NP_001394779.1:p.Tyr418Cys
NP_001394780.1:p.Tyr418Cys
NP_001394781.1:p.Tyr418Cys
NP_001394782.1:p.Tyr394Cys
NP_001394783.1:p.Tyr465Cys
NP_001394787.1:p.Tyr465Cys
NP_001394788.1:p.Tyr465Cys
NP_001394789.1:p.Tyr464Cys
NP_001394790.1:p.Tyr464Cys
NP_001394791.1:p.Tyr398Cys
NP_001394792.1:p.Tyr424Cys
NP_001394803.1:p.Tyr397Cys
NP_001394804.1:p.Tyr397Cys
NP_001394808.1:p.Tyr395Cys
NP_001394810.1:p.Tyr395Cys
NP_001394811.1:p.Tyr395Cys
NP_001394813.1:p.Tyr395Cys
NP_001394814.1:p.Tyr395Cys
NP_001394815.1:p.Tyr395Cys
NP_001394816.1:p.Tyr395Cys
NP_001394818.1:p.Tyr395Cys
NP_001394823.1:p.Tyr394Cys
NP_001394824.1:p.Tyr394Cys
NP_001394825.1:p.Tyr394Cys
NP_001394826.1:p.Tyr394Cys
NP_001394827.1:p.Tyr394Cys
NP_001394828.1:p.Tyr394Cys
NP_001394829.1:p.Tyr395Cys
NP_001394831.1:p.Tyr395Cys
NP_001394833.1:p.Tyr395Cys
NP_001394835.1:p.Tyr395Cys
NP_001394836.1:p.Tyr395Cys
NP_001394837.1:p.Tyr395Cys
NP_001394838.1:p.Tyr395Cys
NP_001394839.1:p.Tyr395Cys
NP_001394844.1:p.Tyr394Cys
NP_001394845.1:p.Tyr394Cys
NP_001394846.1:p.Tyr394Cys
NP_001394847.1:p.Tyr394Cys
NP_001394848.1:p.Tyr424Cys
NP_001394849.1:p.Tyr377Cys
NP_001394850.1:p.Tyr377Cys
NP_001394851.1:p.Tyr377Cys
NP_001394852.1:p.Tyr377Cys
NP_001394853.1:p.Tyr377Cys
NP_001394854.1:p.Tyr377Cys
NP_001394855.1:p.Tyr377Cys
NP_001394856.1:p.Tyr377Cys
NP_001394857.1:p.Tyr377Cys
NP_001394858.1:p.Tyr377Cys
NP_001394859.1:p.Tyr376Cys
NP_001394860.1:p.Tyr376Cys
NP_001394861.1:p.Tyr376Cys
NP_001394862.1:p.Tyr377Cys
NP_001394863.1:p.Tyr376Cys
NP_001394864.1:p.Tyr377Cys
NP_001394865.1:p.Tyr376Cys
NP_001394866.1:p.Tyr424Cys
NP_001394867.1:p.Tyr424Cys
NP_001394868.1:p.Tyr424Cys
NP_001394869.1:p.Tyr423Cys
NP_001394870.1:p.Tyr423Cys
NP_001394871.1:p.Tyr418Cys
NP_001394872.1:p.Tyr417Cys
NP_001394873.1:p.Tyr418Cys
NP_001394874.1:p.Tyr418Cys
NP_001394875.1:p.Tyr354Cys
NP_001394876.1:p.Tyr354Cys
NP_001394877.1:p.Tyr354Cys
NP_001394878.1:p.Tyr354Cys
NP_001394879.1:p.Tyr354Cys
NP_001394880.1:p.Tyr354Cys
NP_001394881.1:p.Tyr354Cys
NP_001394882.1:p.Tyr354Cys
NP_001394883.1:p.Tyr353Cys
NP_001394884.1:p.Tyr353Cys
NP_001394885.1:p.Tyr353Cys
NP_001394886.1:p.Tyr354Cys
NP_001394887.1:p.Tyr353Cys
NP_001394888.1:p.Tyr338Cys
NP_001394889.1:p.Tyr338Cys
NP_001394891.1:p.Tyr337Cys
NP_001394892.1:p.Tyr338Cys
NP_001394893.1:p.Tyr417Cys
NP_001394894.1:p.Tyr297Cys
NP_001394895.1:p.Tyr169Cys
NP_001394896.1:p.Tyr169Cys
NP_009225.1:p.Tyr465Cys
NP_009225.1:p.Tyr465Cys
NP_009228.2:p.Tyr418Cys
NP_009231.2:p.Tyr465Cys
LRG_292t1:c.1394A>G
LRG_292:g.123847A>G
LRG_292p1:p.Tyr465Cys
NC_000017.10:g.41246154T>C
NM_007294.3:c.1394A>G
NR_027676.1:n.1530A>G

Protein change:

Y169C

Links:

dbSNP: rs876659885

NCBI 1000 Genomes Browser:

rs876659885

Molecular consequence:

NM_001407968.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+604A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3105A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3105A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1709A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3105A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+607A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.1316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.1316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.1316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.1316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.1316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.1316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.1313A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.1313A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.1313A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.1313A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.1316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.1193A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.1190A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.1190A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.1181A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.1127A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.1127A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.1127A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.1127A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.1130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.1127A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.1271A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.890A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1394A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000276811	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Feb 8, 2021)	germline	clinical testing	Citation Link,
SCV000682956	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 16, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003851326	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Dines et al. (Genet Med. 2020))	Likely benign (Mar 23, 2023)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000276811

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Feb 8, 2021)

germline

clinical testing

Citation Link,

SCV000682956

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 16, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV003851326

University of Washington Department of Laboratory Medicine, University of Washington

criteria provided, single submitter

(Dines et al. (Genet Med. 2020))

Likely benign
(Mar 23, 2023)

germline

curation

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing, curation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.

Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.

PubMed [citation]

PMID:: 31911673
PMCID:: PMC7200594

Details of each submission

From Ambry Genetics, SCV000276811.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

The p.Y465C variant (also known as c.1394A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 1394. The tyrosine at codon 465 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

From Color Diagnostics, LLC DBA Color Health, SCV000682956.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This missense variant replaces tyrosine with cysteine at codon 465 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA1-related disorders in the literature. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003851326.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

ClinVar

Relating variation to medicine