NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jul 1, 2023
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:: RCV000580031.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe)]

NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe)

HGVS:

NC_000017.11:g.43092254C>A
NG_005905.2:g.125730G>T
NG_087068.1:g.1236C>A
NM_001407571.1:c.3064G>T
NM_001407581.1:c.3277G>T
NM_001407582.1:c.3277G>T
NM_001407583.1:c.3277G>T
NM_001407585.1:c.3277G>T
NM_001407587.1:c.3274G>T
NM_001407590.1:c.3274G>T
NM_001407591.1:c.3274G>T
NM_001407593.1:c.3277G>T
NM_001407594.1:c.3277G>T
NM_001407596.1:c.3277G>T
NM_001407597.1:c.3277G>T
NM_001407598.1:c.3277G>T
NM_001407602.1:c.3277G>T
NM_001407603.1:c.3277G>T
NM_001407605.1:c.3277G>T
NM_001407610.1:c.3274G>T
NM_001407611.1:c.3274G>T
NM_001407612.1:c.3274G>T
NM_001407613.1:c.3274G>T
NM_001407614.1:c.3274G>T
NM_001407615.1:c.3274G>T
NM_001407616.1:c.3277G>T
NM_001407617.1:c.3277G>T
NM_001407618.1:c.3277G>T
NM_001407619.1:c.3277G>T
NM_001407620.1:c.3277G>T
NM_001407621.1:c.3277G>T
NM_001407622.1:c.3277G>T
NM_001407623.1:c.3277G>T
NM_001407624.1:c.3277G>T
NM_001407625.1:c.3277G>T
NM_001407626.1:c.3277G>T
NM_001407627.1:c.3274G>T
NM_001407628.1:c.3274G>T
NM_001407629.1:c.3274G>T
NM_001407630.1:c.3274G>T
NM_001407631.1:c.3274G>T
NM_001407632.1:c.3274G>T
NM_001407633.1:c.3274G>T
NM_001407634.1:c.3274G>T
NM_001407635.1:c.3274G>T
NM_001407636.1:c.3274G>T
NM_001407637.1:c.3274G>T
NM_001407638.1:c.3274G>T
NM_001407639.1:c.3277G>T
NM_001407640.1:c.3277G>T
NM_001407641.1:c.3277G>T
NM_001407642.1:c.3277G>T
NM_001407644.1:c.3274G>T
NM_001407645.1:c.3274G>T
NM_001407646.1:c.3268G>T
NM_001407647.1:c.3268G>T
NM_001407648.1:c.3154G>T
NM_001407649.1:c.3151G>T
NM_001407652.1:c.3277G>T
NM_001407653.1:c.3199G>T
NM_001407654.1:c.3199G>T
NM_001407655.1:c.3199G>T
NM_001407656.1:c.3199G>T
NM_001407657.1:c.3199G>T
NM_001407658.1:c.3199G>T
NM_001407659.1:c.3196G>T
NM_001407660.1:c.3196G>T
NM_001407661.1:c.3196G>T
NM_001407662.1:c.3196G>T
NM_001407663.1:c.3199G>T
NM_001407664.1:c.3154G>T
NM_001407665.1:c.3154G>T
NM_001407666.1:c.3154G>T
NM_001407667.1:c.3154G>T
NM_001407668.1:c.3154G>T
NM_001407669.1:c.3154G>T
NM_001407670.1:c.3151G>T
NM_001407671.1:c.3151G>T
NM_001407672.1:c.3151G>T
NM_001407673.1:c.3151G>T
NM_001407674.1:c.3154G>T
NM_001407675.1:c.3154G>T
NM_001407676.1:c.3154G>T
NM_001407677.1:c.3154G>T
NM_001407678.1:c.3154G>T
NM_001407679.1:c.3154G>T
NM_001407680.1:c.3154G>T
NM_001407681.1:c.3154G>T
NM_001407682.1:c.3154G>T
NM_001407683.1:c.3154G>T
NM_001407684.1:c.3277G>T
NM_001407685.1:c.3151G>T
NM_001407686.1:c.3151G>T
NM_001407687.1:c.3151G>T
NM_001407688.1:c.3151G>T
NM_001407689.1:c.3151G>T
NM_001407690.1:c.3151G>T
NM_001407691.1:c.3151G>T
NM_001407692.1:c.3136G>T
NM_001407694.1:c.3136G>T
NM_001407695.1:c.3136G>T
NM_001407696.1:c.3136G>T
NM_001407697.1:c.3136G>T
NM_001407698.1:c.3136G>T
NM_001407724.1:c.3136G>T
NM_001407725.1:c.3136G>T
NM_001407726.1:c.3136G>T
NM_001407727.1:c.3136G>T
NM_001407728.1:c.3136G>T
NM_001407729.1:c.3136G>T
NM_001407730.1:c.3136G>T
NM_001407731.1:c.3136G>T
NM_001407732.1:c.3136G>T
NM_001407733.1:c.3136G>T
NM_001407734.1:c.3136G>T
NM_001407735.1:c.3136G>T
NM_001407736.1:c.3136G>T
NM_001407737.1:c.3136G>T
NM_001407738.1:c.3136G>T
NM_001407739.1:c.3136G>T
NM_001407740.1:c.3133G>T
NM_001407741.1:c.3133G>T
NM_001407742.1:c.3133G>T
NM_001407743.1:c.3133G>T
NM_001407744.1:c.3133G>T
NM_001407745.1:c.3133G>T
NM_001407746.1:c.3133G>T
NM_001407747.1:c.3133G>T
NM_001407748.1:c.3133G>T
NM_001407749.1:c.3133G>T
NM_001407750.1:c.3136G>T
NM_001407751.1:c.3136G>T
NM_001407752.1:c.3136G>T
NM_001407838.1:c.3133G>T
NM_001407839.1:c.3133G>T
NM_001407841.1:c.3133G>T
NM_001407842.1:c.3133G>T
NM_001407843.1:c.3133G>T
NM_001407844.1:c.3133G>T
NM_001407845.1:c.3133G>T
NM_001407846.1:c.3133G>T
NM_001407847.1:c.3133G>T
NM_001407848.1:c.3133G>T
NM_001407849.1:c.3133G>T
NM_001407850.1:c.3136G>T
NM_001407851.1:c.3136G>T
NM_001407852.1:c.3136G>T
NM_001407853.1:c.3064G>T
NM_001407854.1:c.3277G>T
NM_001407858.1:c.3277G>T
NM_001407859.1:c.3277G>T
NM_001407860.1:c.3274G>T
NM_001407861.1:c.3274G>T
NM_001407862.1:c.3076G>T
NM_001407863.1:c.3154G>T
NM_001407874.1:c.3073G>T
NM_001407875.1:c.3073G>T
NM_001407879.1:c.3067G>T
NM_001407881.1:c.3067G>T
NM_001407882.1:c.3067G>T
NM_001407884.1:c.3067G>T
NM_001407885.1:c.3067G>T
NM_001407886.1:c.3067G>T
NM_001407887.1:c.3067G>T
NM_001407889.1:c.3067G>T
NM_001407894.1:c.3064G>T
NM_001407895.1:c.3064G>T
NM_001407896.1:c.3064G>T
NM_001407897.1:c.3064G>T
NM_001407898.1:c.3064G>T
NM_001407899.1:c.3064G>T
NM_001407900.1:c.3067G>T
NM_001407902.1:c.3067G>T
NM_001407904.1:c.3067G>T
NM_001407906.1:c.3067G>T
NM_001407907.1:c.3067G>T
NM_001407908.1:c.3067G>T
NM_001407909.1:c.3067G>T
NM_001407910.1:c.3067G>T
NM_001407915.1:c.3064G>T
NM_001407916.1:c.3064G>T
NM_001407917.1:c.3064G>T
NM_001407918.1:c.3064G>T
NM_001407919.1:c.3154G>T
NM_001407920.1:c.3013G>T
NM_001407921.1:c.3013G>T
NM_001407922.1:c.3013G>T
NM_001407923.1:c.3013G>T
NM_001407924.1:c.3013G>T
NM_001407925.1:c.3013G>T
NM_001407926.1:c.3013G>T
NM_001407927.1:c.3013G>T
NM_001407928.1:c.3013G>T
NM_001407929.1:c.3013G>T
NM_001407930.1:c.3010G>T
NM_001407931.1:c.3010G>T
NM_001407932.1:c.3010G>T
NM_001407933.1:c.3013G>T
NM_001407934.1:c.3010G>T
NM_001407935.1:c.3013G>T
NM_001407936.1:c.3010G>T
NM_001407937.1:c.3154G>T
NM_001407938.1:c.3154G>T
NM_001407939.1:c.3154G>T
NM_001407940.1:c.3151G>T
NM_001407941.1:c.3151G>T
NM_001407942.1:c.3136G>T
NM_001407943.1:c.3133G>T
NM_001407944.1:c.3136G>T
NM_001407945.1:c.3136G>T
NM_001407946.1:c.2944G>T
NM_001407947.1:c.2944G>T
NM_001407948.1:c.2944G>T
NM_001407949.1:c.2944G>T
NM_001407950.1:c.2944G>T
NM_001407951.1:c.2944G>T
NM_001407952.1:c.2944G>T
NM_001407953.1:c.2944G>T
NM_001407954.1:c.2941G>T
NM_001407955.1:c.2941G>T
NM_001407956.1:c.2941G>T
NM_001407957.1:c.2944G>T
NM_001407958.1:c.2941G>T
NM_001407959.1:c.2896G>T
NM_001407960.1:c.2896G>T
NM_001407962.1:c.2893G>T
NM_001407963.1:c.2896G>T
NM_001407964.1:c.3133G>T
NM_001407965.1:c.2773G>T
NM_001407966.1:c.2389G>T
NM_001407967.1:c.2389G>T
NM_001407968.1:c.788-115G>T
NM_001407969.1:c.788-115G>T
NM_001407970.1:c.788-1222G>T
NM_001407971.1:c.788-1222G>T
NM_001407972.1:c.785-1222G>T
NM_001407973.1:c.788-1222G>T
NM_001407974.1:c.788-1222G>T
NM_001407975.1:c.788-1222G>T
NM_001407976.1:c.788-1222G>T
NM_001407977.1:c.788-1222G>T
NM_001407978.1:c.788-1222G>T
NM_001407979.1:c.788-1222G>T
NM_001407980.1:c.788-1222G>T
NM_001407981.1:c.788-1222G>T
NM_001407982.1:c.788-1222G>T
NM_001407983.1:c.788-1222G>T
NM_001407984.1:c.785-1222G>T
NM_001407985.1:c.785-1222G>T
NM_001407986.1:c.785-1222G>T
NM_001407990.1:c.788-1222G>T
NM_001407991.1:c.785-1222G>T
NM_001407992.1:c.785-1222G>T
NM_001407993.1:c.788-1222G>T
NM_001408392.1:c.785-1222G>T
NM_001408396.1:c.785-1222G>T
NM_001408397.1:c.785-1222G>T
NM_001408398.1:c.785-1222G>T
NM_001408399.1:c.785-1222G>T
NM_001408400.1:c.785-1222G>T
NM_001408401.1:c.785-1222G>T
NM_001408402.1:c.785-1222G>T
NM_001408403.1:c.788-1222G>T
NM_001408404.1:c.788-1222G>T
NM_001408406.1:c.791-1231G>T
NM_001408407.1:c.785-1222G>T
NM_001408408.1:c.779-1222G>T
NM_001408409.1:c.710-1222G>T
NM_001408410.1:c.647-1222G>T
NM_001408411.1:c.710-1222G>T
NM_001408412.1:c.710-1222G>T
NM_001408413.1:c.707-1222G>T
NM_001408414.1:c.710-1222G>T
NM_001408415.1:c.710-1222G>T
NM_001408416.1:c.707-1222G>T
NM_001408418.1:c.671-1222G>T
NM_001408419.1:c.671-1222G>T
NM_001408420.1:c.671-1222G>T
NM_001408421.1:c.668-1222G>T
NM_001408422.1:c.671-1222G>T
NM_001408423.1:c.671-1222G>T
NM_001408424.1:c.668-1222G>T
NM_001408425.1:c.665-1222G>T
NM_001408426.1:c.665-1222G>T
NM_001408427.1:c.665-1222G>T
NM_001408428.1:c.665-1222G>T
NM_001408429.1:c.665-1222G>T
NM_001408430.1:c.665-1222G>T
NM_001408431.1:c.668-1222G>T
NM_001408432.1:c.662-1222G>T
NM_001408433.1:c.662-1222G>T
NM_001408434.1:c.662-1222G>T
NM_001408435.1:c.662-1222G>T
NM_001408436.1:c.665-1222G>T
NM_001408437.1:c.665-1222G>T
NM_001408438.1:c.665-1222G>T
NM_001408439.1:c.665-1222G>T
NM_001408440.1:c.665-1222G>T
NM_001408441.1:c.665-1222G>T
NM_001408442.1:c.665-1222G>T
NM_001408443.1:c.665-1222G>T
NM_001408444.1:c.665-1222G>T
NM_001408445.1:c.662-1222G>T
NM_001408446.1:c.662-1222G>T
NM_001408447.1:c.662-1222G>T
NM_001408448.1:c.662-1222G>T
NM_001408450.1:c.662-1222G>T
NM_001408451.1:c.653-1222G>T
NM_001408452.1:c.647-1222G>T
NM_001408453.1:c.647-1222G>T
NM_001408454.1:c.647-1222G>T
NM_001408455.1:c.647-1222G>T
NM_001408456.1:c.647-1222G>T
NM_001408457.1:c.647-1222G>T
NM_001408458.1:c.647-1222G>T
NM_001408459.1:c.647-1222G>T
NM_001408460.1:c.647-1222G>T
NM_001408461.1:c.647-1222G>T
NM_001408462.1:c.644-1222G>T
NM_001408463.1:c.644-1222G>T
NM_001408464.1:c.644-1222G>T
NM_001408465.1:c.644-1222G>T
NM_001408466.1:c.647-1222G>T
NM_001408467.1:c.647-1222G>T
NM_001408468.1:c.644-1222G>T
NM_001408469.1:c.647-1222G>T
NM_001408470.1:c.644-1222G>T
NM_001408472.1:c.788-1222G>T
NM_001408473.1:c.785-1222G>T
NM_001408474.1:c.587-1222G>T
NM_001408475.1:c.584-1222G>T
NM_001408476.1:c.587-1222G>T
NM_001408478.1:c.578-1222G>T
NM_001408479.1:c.578-1222G>T
NM_001408480.1:c.578-1222G>T
NM_001408481.1:c.578-1222G>T
NM_001408482.1:c.578-1222G>T
NM_001408483.1:c.578-1222G>T
NM_001408484.1:c.578-1222G>T
NM_001408485.1:c.578-1222G>T
NM_001408489.1:c.578-1222G>T
NM_001408490.1:c.575-1222G>T
NM_001408491.1:c.575-1222G>T
NM_001408492.1:c.578-1222G>T
NM_001408493.1:c.575-1222G>T
NM_001408494.1:c.548-1222G>T
NM_001408495.1:c.545-1222G>T
NM_001408496.1:c.524-1222G>T
NM_001408497.1:c.524-1222G>T
NM_001408498.1:c.524-1222G>T
NM_001408499.1:c.524-1222G>T
NM_001408500.1:c.524-1222G>T
NM_001408501.1:c.524-1222G>T
NM_001408502.1:c.455-1222G>T
NM_001408503.1:c.521-1222G>T
NM_001408504.1:c.521-1222G>T
NM_001408505.1:c.521-1222G>T
NM_001408506.1:c.461-1222G>T
NM_001408507.1:c.461-1222G>T
NM_001408508.1:c.452-1222G>T
NM_001408509.1:c.452-1222G>T
NM_001408510.1:c.407-1222G>T
NM_001408511.1:c.404-1222G>T
NM_001408512.1:c.284-1222G>T
NM_001408513.1:c.578-1222G>T
NM_001408514.1:c.578-1222G>T
NM_007294.4:c.3277G>TMANE SELECT
NM_007297.4:c.3136G>T
NM_007298.4:c.788-1222G>T
NM_007299.4:c.788-1222G>T
NM_007300.4:c.3277G>T
NP_001394500.1:p.Val1022Phe
NP_001394510.1:p.Val1093Phe
NP_001394511.1:p.Val1093Phe
NP_001394512.1:p.Val1093Phe
NP_001394514.1:p.Val1093Phe
NP_001394516.1:p.Val1092Phe
NP_001394519.1:p.Val1092Phe
NP_001394520.1:p.Val1092Phe
NP_001394522.1:p.Val1093Phe
NP_001394523.1:p.Val1093Phe
NP_001394525.1:p.Val1093Phe
NP_001394526.1:p.Val1093Phe
NP_001394527.1:p.Val1093Phe
NP_001394531.1:p.Val1093Phe
NP_001394532.1:p.Val1093Phe
NP_001394534.1:p.Val1093Phe
NP_001394539.1:p.Val1092Phe
NP_001394540.1:p.Val1092Phe
NP_001394541.1:p.Val1092Phe
NP_001394542.1:p.Val1092Phe
NP_001394543.1:p.Val1092Phe
NP_001394544.1:p.Val1092Phe
NP_001394545.1:p.Val1093Phe
NP_001394546.1:p.Val1093Phe
NP_001394547.1:p.Val1093Phe
NP_001394548.1:p.Val1093Phe
NP_001394549.1:p.Val1093Phe
NP_001394550.1:p.Val1093Phe
NP_001394551.1:p.Val1093Phe
NP_001394552.1:p.Val1093Phe
NP_001394553.1:p.Val1093Phe
NP_001394554.1:p.Val1093Phe
NP_001394555.1:p.Val1093Phe
NP_001394556.1:p.Val1092Phe
NP_001394557.1:p.Val1092Phe
NP_001394558.1:p.Val1092Phe
NP_001394559.1:p.Val1092Phe
NP_001394560.1:p.Val1092Phe
NP_001394561.1:p.Val1092Phe
NP_001394562.1:p.Val1092Phe
NP_001394563.1:p.Val1092Phe
NP_001394564.1:p.Val1092Phe
NP_001394565.1:p.Val1092Phe
NP_001394566.1:p.Val1092Phe
NP_001394567.1:p.Val1092Phe
NP_001394568.1:p.Val1093Phe
NP_001394569.1:p.Val1093Phe
NP_001394570.1:p.Val1093Phe
NP_001394571.1:p.Val1093Phe
NP_001394573.1:p.Val1092Phe
NP_001394574.1:p.Val1092Phe
NP_001394575.1:p.Val1090Phe
NP_001394576.1:p.Val1090Phe
NP_001394577.1:p.Val1052Phe
NP_001394578.1:p.Val1051Phe
NP_001394581.1:p.Val1093Phe
NP_001394582.1:p.Val1067Phe
NP_001394583.1:p.Val1067Phe
NP_001394584.1:p.Val1067Phe
NP_001394585.1:p.Val1067Phe
NP_001394586.1:p.Val1067Phe
NP_001394587.1:p.Val1067Phe
NP_001394588.1:p.Val1066Phe
NP_001394589.1:p.Val1066Phe
NP_001394590.1:p.Val1066Phe
NP_001394591.1:p.Val1066Phe
NP_001394592.1:p.Val1067Phe
NP_001394593.1:p.Val1052Phe
NP_001394594.1:p.Val1052Phe
NP_001394595.1:p.Val1052Phe
NP_001394596.1:p.Val1052Phe
NP_001394597.1:p.Val1052Phe
NP_001394598.1:p.Val1052Phe
NP_001394599.1:p.Val1051Phe
NP_001394600.1:p.Val1051Phe
NP_001394601.1:p.Val1051Phe
NP_001394602.1:p.Val1051Phe
NP_001394603.1:p.Val1052Phe
NP_001394604.1:p.Val1052Phe
NP_001394605.1:p.Val1052Phe
NP_001394606.1:p.Val1052Phe
NP_001394607.1:p.Val1052Phe
NP_001394608.1:p.Val1052Phe
NP_001394609.1:p.Val1052Phe
NP_001394610.1:p.Val1052Phe
NP_001394611.1:p.Val1052Phe
NP_001394612.1:p.Val1052Phe
NP_001394613.1:p.Val1093Phe
NP_001394614.1:p.Val1051Phe
NP_001394615.1:p.Val1051Phe
NP_001394616.1:p.Val1051Phe
NP_001394617.1:p.Val1051Phe
NP_001394618.1:p.Val1051Phe
NP_001394619.1:p.Val1051Phe
NP_001394620.1:p.Val1051Phe
NP_001394621.1:p.Val1046Phe
NP_001394623.1:p.Val1046Phe
NP_001394624.1:p.Val1046Phe
NP_001394625.1:p.Val1046Phe
NP_001394626.1:p.Val1046Phe
NP_001394627.1:p.Val1046Phe
NP_001394653.1:p.Val1046Phe
NP_001394654.1:p.Val1046Phe
NP_001394655.1:p.Val1046Phe
NP_001394656.1:p.Val1046Phe
NP_001394657.1:p.Val1046Phe
NP_001394658.1:p.Val1046Phe
NP_001394659.1:p.Val1046Phe
NP_001394660.1:p.Val1046Phe
NP_001394661.1:p.Val1046Phe
NP_001394662.1:p.Val1046Phe
NP_001394663.1:p.Val1046Phe
NP_001394664.1:p.Val1046Phe
NP_001394665.1:p.Val1046Phe
NP_001394666.1:p.Val1046Phe
NP_001394667.1:p.Val1046Phe
NP_001394668.1:p.Val1046Phe
NP_001394669.1:p.Val1045Phe
NP_001394670.1:p.Val1045Phe
NP_001394671.1:p.Val1045Phe
NP_001394672.1:p.Val1045Phe
NP_001394673.1:p.Val1045Phe
NP_001394674.1:p.Val1045Phe
NP_001394675.1:p.Val1045Phe
NP_001394676.1:p.Val1045Phe
NP_001394677.1:p.Val1045Phe
NP_001394678.1:p.Val1045Phe
NP_001394679.1:p.Val1046Phe
NP_001394680.1:p.Val1046Phe
NP_001394681.1:p.Val1046Phe
NP_001394767.1:p.Val1045Phe
NP_001394768.1:p.Val1045Phe
NP_001394770.1:p.Val1045Phe
NP_001394771.1:p.Val1045Phe
NP_001394772.1:p.Val1045Phe
NP_001394773.1:p.Val1045Phe
NP_001394774.1:p.Val1045Phe
NP_001394775.1:p.Val1045Phe
NP_001394776.1:p.Val1045Phe
NP_001394777.1:p.Val1045Phe
NP_001394778.1:p.Val1045Phe
NP_001394779.1:p.Val1046Phe
NP_001394780.1:p.Val1046Phe
NP_001394781.1:p.Val1046Phe
NP_001394782.1:p.Val1022Phe
NP_001394783.1:p.Val1093Phe
NP_001394787.1:p.Val1093Phe
NP_001394788.1:p.Val1093Phe
NP_001394789.1:p.Val1092Phe
NP_001394790.1:p.Val1092Phe
NP_001394791.1:p.Val1026Phe
NP_001394792.1:p.Val1052Phe
NP_001394803.1:p.Val1025Phe
NP_001394804.1:p.Val1025Phe
NP_001394808.1:p.Val1023Phe
NP_001394810.1:p.Val1023Phe
NP_001394811.1:p.Val1023Phe
NP_001394813.1:p.Val1023Phe
NP_001394814.1:p.Val1023Phe
NP_001394815.1:p.Val1023Phe
NP_001394816.1:p.Val1023Phe
NP_001394818.1:p.Val1023Phe
NP_001394823.1:p.Val1022Phe
NP_001394824.1:p.Val1022Phe
NP_001394825.1:p.Val1022Phe
NP_001394826.1:p.Val1022Phe
NP_001394827.1:p.Val1022Phe
NP_001394828.1:p.Val1022Phe
NP_001394829.1:p.Val1023Phe
NP_001394831.1:p.Val1023Phe
NP_001394833.1:p.Val1023Phe
NP_001394835.1:p.Val1023Phe
NP_001394836.1:p.Val1023Phe
NP_001394837.1:p.Val1023Phe
NP_001394838.1:p.Val1023Phe
NP_001394839.1:p.Val1023Phe
NP_001394844.1:p.Val1022Phe
NP_001394845.1:p.Val1022Phe
NP_001394846.1:p.Val1022Phe
NP_001394847.1:p.Val1022Phe
NP_001394848.1:p.Val1052Phe
NP_001394849.1:p.Val1005Phe
NP_001394850.1:p.Val1005Phe
NP_001394851.1:p.Val1005Phe
NP_001394852.1:p.Val1005Phe
NP_001394853.1:p.Val1005Phe
NP_001394854.1:p.Val1005Phe
NP_001394855.1:p.Val1005Phe
NP_001394856.1:p.Val1005Phe
NP_001394857.1:p.Val1005Phe
NP_001394858.1:p.Val1005Phe
NP_001394859.1:p.Val1004Phe
NP_001394860.1:p.Val1004Phe
NP_001394861.1:p.Val1004Phe
NP_001394862.1:p.Val1005Phe
NP_001394863.1:p.Val1004Phe
NP_001394864.1:p.Val1005Phe
NP_001394865.1:p.Val1004Phe
NP_001394866.1:p.Val1052Phe
NP_001394867.1:p.Val1052Phe
NP_001394868.1:p.Val1052Phe
NP_001394869.1:p.Val1051Phe
NP_001394870.1:p.Val1051Phe
NP_001394871.1:p.Val1046Phe
NP_001394872.1:p.Val1045Phe
NP_001394873.1:p.Val1046Phe
NP_001394874.1:p.Val1046Phe
NP_001394875.1:p.Val982Phe
NP_001394876.1:p.Val982Phe
NP_001394877.1:p.Val982Phe
NP_001394878.1:p.Val982Phe
NP_001394879.1:p.Val982Phe
NP_001394880.1:p.Val982Phe
NP_001394881.1:p.Val982Phe
NP_001394882.1:p.Val982Phe
NP_001394883.1:p.Val981Phe
NP_001394884.1:p.Val981Phe
NP_001394885.1:p.Val981Phe
NP_001394886.1:p.Val982Phe
NP_001394887.1:p.Val981Phe
NP_001394888.1:p.Val966Phe
NP_001394889.1:p.Val966Phe
NP_001394891.1:p.Val965Phe
NP_001394892.1:p.Val966Phe
NP_001394893.1:p.Val1045Phe
NP_001394894.1:p.Val925Phe
NP_001394895.1:p.Val797Phe
NP_001394896.1:p.Val797Phe
NP_009225.1:p.Val1093Phe
NP_009225.1:p.Val1093Phe
NP_009228.2:p.Val1046Phe
NP_009231.2:p.Val1093Phe
LRG_292t1:c.3277G>T
LRG_292:g.125730G>T
LRG_292p1:p.Val1093Phe
NC_000017.10:g.41244271C>A
NM_007294.3:c.3277G>T
NR_027676.1:n.3413G>T

Protein change:

V1004F

Links:

dbSNP: rs587778117

NCBI 1000 Genomes Browser:

rs587778117

Molecular consequence:

NM_001407968.1:c.788-115G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-115G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1231G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1222G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3196G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3196G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3196G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3196G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.3076G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.3073G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.3073G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.3067G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.3064G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.3013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.3010G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.3154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2941G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2941G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2941G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2941G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2893G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2773G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.3136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3277G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000683095	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 1, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24728327, 25741868
SCV002612082	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 27, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV003847224	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

SCV000683095

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 1, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV002612082

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 27, 2021)

germline

clinical testing

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

Citation Link,

SCV003847224

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	not provided	not provided	not provided	not provided	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

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000683095.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This missense variant replaces valine with phenylalanine at codon 1093 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been performed for this variant. This variant has been reported in a healthy individual (PMID: 24728327). 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 Ambry Genetics, SCV002612082.2

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

Description

The p.V1093F variant (also known as c.3277G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 3277. The valine at codon 1093 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003847224.1

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

Description

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

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine