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NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 3, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001363803.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp)]

NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp)

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.3263T>A (p.Val1088Asp)
Other names:
NP_009225.1:p.Val1088Asp
HGVS:
  • NC_000017.11:g.43092268A>T
  • NG_005905.2:g.125716T>A
  • NG_087068.1:g.1250A>T
  • NM_001407571.1:c.3050T>A
  • NM_001407581.1:c.3263T>A
  • NM_001407582.1:c.3263T>A
  • NM_001407583.1:c.3263T>A
  • NM_001407585.1:c.3263T>A
  • NM_001407587.1:c.3260T>A
  • NM_001407590.1:c.3260T>A
  • NM_001407591.1:c.3260T>A
  • NM_001407593.1:c.3263T>A
  • NM_001407594.1:c.3263T>A
  • NM_001407596.1:c.3263T>A
  • NM_001407597.1:c.3263T>A
  • NM_001407598.1:c.3263T>A
  • NM_001407602.1:c.3263T>A
  • NM_001407603.1:c.3263T>A
  • NM_001407605.1:c.3263T>A
  • NM_001407610.1:c.3260T>A
  • NM_001407611.1:c.3260T>A
  • NM_001407612.1:c.3260T>A
  • NM_001407613.1:c.3260T>A
  • NM_001407614.1:c.3260T>A
  • NM_001407615.1:c.3260T>A
  • NM_001407616.1:c.3263T>A
  • NM_001407617.1:c.3263T>A
  • NM_001407618.1:c.3263T>A
  • NM_001407619.1:c.3263T>A
  • NM_001407620.1:c.3263T>A
  • NM_001407621.1:c.3263T>A
  • NM_001407622.1:c.3263T>A
  • NM_001407623.1:c.3263T>A
  • NM_001407624.1:c.3263T>A
  • NM_001407625.1:c.3263T>A
  • NM_001407626.1:c.3263T>A
  • NM_001407627.1:c.3260T>A
  • NM_001407628.1:c.3260T>A
  • NM_001407629.1:c.3260T>A
  • NM_001407630.1:c.3260T>A
  • NM_001407631.1:c.3260T>A
  • NM_001407632.1:c.3260T>A
  • NM_001407633.1:c.3260T>A
  • NM_001407634.1:c.3260T>A
  • NM_001407635.1:c.3260T>A
  • NM_001407636.1:c.3260T>A
  • NM_001407637.1:c.3260T>A
  • NM_001407638.1:c.3260T>A
  • NM_001407639.1:c.3263T>A
  • NM_001407640.1:c.3263T>A
  • NM_001407641.1:c.3263T>A
  • NM_001407642.1:c.3263T>A
  • NM_001407644.1:c.3260T>A
  • NM_001407645.1:c.3260T>A
  • NM_001407646.1:c.3254T>A
  • NM_001407647.1:c.3254T>A
  • NM_001407648.1:c.3140T>A
  • NM_001407649.1:c.3137T>A
  • NM_001407652.1:c.3263T>A
  • NM_001407653.1:c.3185T>A
  • NM_001407654.1:c.3185T>A
  • NM_001407655.1:c.3185T>A
  • NM_001407656.1:c.3185T>A
  • NM_001407657.1:c.3185T>A
  • NM_001407658.1:c.3185T>A
  • NM_001407659.1:c.3182T>A
  • NM_001407660.1:c.3182T>A
  • NM_001407661.1:c.3182T>A
  • NM_001407662.1:c.3182T>A
  • NM_001407663.1:c.3185T>A
  • NM_001407664.1:c.3140T>A
  • NM_001407665.1:c.3140T>A
  • NM_001407666.1:c.3140T>A
  • NM_001407667.1:c.3140T>A
  • NM_001407668.1:c.3140T>A
  • NM_001407669.1:c.3140T>A
  • NM_001407670.1:c.3137T>A
  • NM_001407671.1:c.3137T>A
  • NM_001407672.1:c.3137T>A
  • NM_001407673.1:c.3137T>A
  • NM_001407674.1:c.3140T>A
  • NM_001407675.1:c.3140T>A
  • NM_001407676.1:c.3140T>A
  • NM_001407677.1:c.3140T>A
  • NM_001407678.1:c.3140T>A
  • NM_001407679.1:c.3140T>A
  • NM_001407680.1:c.3140T>A
  • NM_001407681.1:c.3140T>A
  • NM_001407682.1:c.3140T>A
  • NM_001407683.1:c.3140T>A
  • NM_001407684.1:c.3263T>A
  • NM_001407685.1:c.3137T>A
  • NM_001407686.1:c.3137T>A
  • NM_001407687.1:c.3137T>A
  • NM_001407688.1:c.3137T>A
  • NM_001407689.1:c.3137T>A
  • NM_001407690.1:c.3137T>A
  • NM_001407691.1:c.3137T>A
  • NM_001407692.1:c.3122T>A
  • NM_001407694.1:c.3122T>A
  • NM_001407695.1:c.3122T>A
  • NM_001407696.1:c.3122T>A
  • NM_001407697.1:c.3122T>A
  • NM_001407698.1:c.3122T>A
  • NM_001407724.1:c.3122T>A
  • NM_001407725.1:c.3122T>A
  • NM_001407726.1:c.3122T>A
  • NM_001407727.1:c.3122T>A
  • NM_001407728.1:c.3122T>A
  • NM_001407729.1:c.3122T>A
  • NM_001407730.1:c.3122T>A
  • NM_001407731.1:c.3122T>A
  • NM_001407732.1:c.3122T>A
  • NM_001407733.1:c.3122T>A
  • NM_001407734.1:c.3122T>A
  • NM_001407735.1:c.3122T>A
  • NM_001407736.1:c.3122T>A
  • NM_001407737.1:c.3122T>A
  • NM_001407738.1:c.3122T>A
  • NM_001407739.1:c.3122T>A
  • NM_001407740.1:c.3119T>A
  • NM_001407741.1:c.3119T>A
  • NM_001407742.1:c.3119T>A
  • NM_001407743.1:c.3119T>A
  • NM_001407744.1:c.3119T>A
  • NM_001407745.1:c.3119T>A
  • NM_001407746.1:c.3119T>A
  • NM_001407747.1:c.3119T>A
  • NM_001407748.1:c.3119T>A
  • NM_001407749.1:c.3119T>A
  • NM_001407750.1:c.3122T>A
  • NM_001407751.1:c.3122T>A
  • NM_001407752.1:c.3122T>A
  • NM_001407838.1:c.3119T>A
  • NM_001407839.1:c.3119T>A
  • NM_001407841.1:c.3119T>A
  • NM_001407842.1:c.3119T>A
  • NM_001407843.1:c.3119T>A
  • NM_001407844.1:c.3119T>A
  • NM_001407845.1:c.3119T>A
  • NM_001407846.1:c.3119T>A
  • NM_001407847.1:c.3119T>A
  • NM_001407848.1:c.3119T>A
  • NM_001407849.1:c.3119T>A
  • NM_001407850.1:c.3122T>A
  • NM_001407851.1:c.3122T>A
  • NM_001407852.1:c.3122T>A
  • NM_001407853.1:c.3050T>A
  • NM_001407854.1:c.3263T>A
  • NM_001407858.1:c.3263T>A
  • NM_001407859.1:c.3263T>A
  • NM_001407860.1:c.3260T>A
  • NM_001407861.1:c.3260T>A
  • NM_001407862.1:c.3062T>A
  • NM_001407863.1:c.3140T>A
  • NM_001407874.1:c.3059T>A
  • NM_001407875.1:c.3059T>A
  • NM_001407879.1:c.3053T>A
  • NM_001407881.1:c.3053T>A
  • NM_001407882.1:c.3053T>A
  • NM_001407884.1:c.3053T>A
  • NM_001407885.1:c.3053T>A
  • NM_001407886.1:c.3053T>A
  • NM_001407887.1:c.3053T>A
  • NM_001407889.1:c.3053T>A
  • NM_001407894.1:c.3050T>A
  • NM_001407895.1:c.3050T>A
  • NM_001407896.1:c.3050T>A
  • NM_001407897.1:c.3050T>A
  • NM_001407898.1:c.3050T>A
  • NM_001407899.1:c.3050T>A
  • NM_001407900.1:c.3053T>A
  • NM_001407902.1:c.3053T>A
  • NM_001407904.1:c.3053T>A
  • NM_001407906.1:c.3053T>A
  • NM_001407907.1:c.3053T>A
  • NM_001407908.1:c.3053T>A
  • NM_001407909.1:c.3053T>A
  • NM_001407910.1:c.3053T>A
  • NM_001407915.1:c.3050T>A
  • NM_001407916.1:c.3050T>A
  • NM_001407917.1:c.3050T>A
  • NM_001407918.1:c.3050T>A
  • NM_001407919.1:c.3140T>A
  • NM_001407920.1:c.2999T>A
  • NM_001407921.1:c.2999T>A
  • NM_001407922.1:c.2999T>A
  • NM_001407923.1:c.2999T>A
  • NM_001407924.1:c.2999T>A
  • NM_001407925.1:c.2999T>A
  • NM_001407926.1:c.2999T>A
  • NM_001407927.1:c.2999T>A
  • NM_001407928.1:c.2999T>A
  • NM_001407929.1:c.2999T>A
  • NM_001407930.1:c.2996T>A
  • NM_001407931.1:c.2996T>A
  • NM_001407932.1:c.2996T>A
  • NM_001407933.1:c.2999T>A
  • NM_001407934.1:c.2996T>A
  • NM_001407935.1:c.2999T>A
  • NM_001407936.1:c.2996T>A
  • NM_001407937.1:c.3140T>A
  • NM_001407938.1:c.3140T>A
  • NM_001407939.1:c.3140T>A
  • NM_001407940.1:c.3137T>A
  • NM_001407941.1:c.3137T>A
  • NM_001407942.1:c.3122T>A
  • NM_001407943.1:c.3119T>A
  • NM_001407944.1:c.3122T>A
  • NM_001407945.1:c.3122T>A
  • NM_001407946.1:c.2930T>A
  • NM_001407947.1:c.2930T>A
  • NM_001407948.1:c.2930T>A
  • NM_001407949.1:c.2930T>A
  • NM_001407950.1:c.2930T>A
  • NM_001407951.1:c.2930T>A
  • NM_001407952.1:c.2930T>A
  • NM_001407953.1:c.2930T>A
  • NM_001407954.1:c.2927T>A
  • NM_001407955.1:c.2927T>A
  • NM_001407956.1:c.2927T>A
  • NM_001407957.1:c.2930T>A
  • NM_001407958.1:c.2927T>A
  • NM_001407959.1:c.2882T>A
  • NM_001407960.1:c.2882T>A
  • NM_001407962.1:c.2879T>A
  • NM_001407963.1:c.2882T>A
  • NM_001407964.1:c.3119T>A
  • NM_001407965.1:c.2759T>A
  • NM_001407966.1:c.2375T>A
  • NM_001407967.1:c.2375T>A
  • NM_001407968.1:c.788-129T>A
  • NM_001407969.1:c.788-129T>A
  • NM_001407970.1:c.788-1236T>A
  • NM_001407971.1:c.788-1236T>A
  • NM_001407972.1:c.785-1236T>A
  • NM_001407973.1:c.788-1236T>A
  • NM_001407974.1:c.788-1236T>A
  • NM_001407975.1:c.788-1236T>A
  • NM_001407976.1:c.788-1236T>A
  • NM_001407977.1:c.788-1236T>A
  • NM_001407978.1:c.788-1236T>A
  • NM_001407979.1:c.788-1236T>A
  • NM_001407980.1:c.788-1236T>A
  • NM_001407981.1:c.788-1236T>A
  • NM_001407982.1:c.788-1236T>A
  • NM_001407983.1:c.788-1236T>A
  • NM_001407984.1:c.785-1236T>A
  • NM_001407985.1:c.785-1236T>A
  • NM_001407986.1:c.785-1236T>A
  • NM_001407990.1:c.788-1236T>A
  • NM_001407991.1:c.785-1236T>A
  • NM_001407992.1:c.785-1236T>A
  • NM_001407993.1:c.788-1236T>A
  • NM_001408392.1:c.785-1236T>A
  • NM_001408396.1:c.785-1236T>A
  • NM_001408397.1:c.785-1236T>A
  • NM_001408398.1:c.785-1236T>A
  • NM_001408399.1:c.785-1236T>A
  • NM_001408400.1:c.785-1236T>A
  • NM_001408401.1:c.785-1236T>A
  • NM_001408402.1:c.785-1236T>A
  • NM_001408403.1:c.788-1236T>A
  • NM_001408404.1:c.788-1236T>A
  • NM_001408406.1:c.791-1245T>A
  • NM_001408407.1:c.785-1236T>A
  • NM_001408408.1:c.779-1236T>A
  • NM_001408409.1:c.710-1236T>A
  • NM_001408410.1:c.647-1236T>A
  • NM_001408411.1:c.710-1236T>A
  • NM_001408412.1:c.710-1236T>A
  • NM_001408413.1:c.707-1236T>A
  • NM_001408414.1:c.710-1236T>A
  • NM_001408415.1:c.710-1236T>A
  • NM_001408416.1:c.707-1236T>A
  • NM_001408418.1:c.671-1236T>A
  • NM_001408419.1:c.671-1236T>A
  • NM_001408420.1:c.671-1236T>A
  • NM_001408421.1:c.668-1236T>A
  • NM_001408422.1:c.671-1236T>A
  • NM_001408423.1:c.671-1236T>A
  • NM_001408424.1:c.668-1236T>A
  • NM_001408425.1:c.665-1236T>A
  • NM_001408426.1:c.665-1236T>A
  • NM_001408427.1:c.665-1236T>A
  • NM_001408428.1:c.665-1236T>A
  • NM_001408429.1:c.665-1236T>A
  • NM_001408430.1:c.665-1236T>A
  • NM_001408431.1:c.668-1236T>A
  • NM_001408432.1:c.662-1236T>A
  • NM_001408433.1:c.662-1236T>A
  • NM_001408434.1:c.662-1236T>A
  • NM_001408435.1:c.662-1236T>A
  • NM_001408436.1:c.665-1236T>A
  • NM_001408437.1:c.665-1236T>A
  • NM_001408438.1:c.665-1236T>A
  • NM_001408439.1:c.665-1236T>A
  • NM_001408440.1:c.665-1236T>A
  • NM_001408441.1:c.665-1236T>A
  • NM_001408442.1:c.665-1236T>A
  • NM_001408443.1:c.665-1236T>A
  • NM_001408444.1:c.665-1236T>A
  • NM_001408445.1:c.662-1236T>A
  • NM_001408446.1:c.662-1236T>A
  • NM_001408447.1:c.662-1236T>A
  • NM_001408448.1:c.662-1236T>A
  • NM_001408450.1:c.662-1236T>A
  • NM_001408451.1:c.653-1236T>A
  • NM_001408452.1:c.647-1236T>A
  • NM_001408453.1:c.647-1236T>A
  • NM_001408454.1:c.647-1236T>A
  • NM_001408455.1:c.647-1236T>A
  • NM_001408456.1:c.647-1236T>A
  • NM_001408457.1:c.647-1236T>A
  • NM_001408458.1:c.647-1236T>A
  • NM_001408459.1:c.647-1236T>A
  • NM_001408460.1:c.647-1236T>A
  • NM_001408461.1:c.647-1236T>A
  • NM_001408462.1:c.644-1236T>A
  • NM_001408463.1:c.644-1236T>A
  • NM_001408464.1:c.644-1236T>A
  • NM_001408465.1:c.644-1236T>A
  • NM_001408466.1:c.647-1236T>A
  • NM_001408467.1:c.647-1236T>A
  • NM_001408468.1:c.644-1236T>A
  • NM_001408469.1:c.647-1236T>A
  • NM_001408470.1:c.644-1236T>A
  • NM_001408472.1:c.788-1236T>A
  • NM_001408473.1:c.785-1236T>A
  • NM_001408474.1:c.587-1236T>A
  • NM_001408475.1:c.584-1236T>A
  • NM_001408476.1:c.587-1236T>A
  • NM_001408478.1:c.578-1236T>A
  • NM_001408479.1:c.578-1236T>A
  • NM_001408480.1:c.578-1236T>A
  • NM_001408481.1:c.578-1236T>A
  • NM_001408482.1:c.578-1236T>A
  • NM_001408483.1:c.578-1236T>A
  • NM_001408484.1:c.578-1236T>A
  • NM_001408485.1:c.578-1236T>A
  • NM_001408489.1:c.578-1236T>A
  • NM_001408490.1:c.575-1236T>A
  • NM_001408491.1:c.575-1236T>A
  • NM_001408492.1:c.578-1236T>A
  • NM_001408493.1:c.575-1236T>A
  • NM_001408494.1:c.548-1236T>A
  • NM_001408495.1:c.545-1236T>A
  • NM_001408496.1:c.524-1236T>A
  • NM_001408497.1:c.524-1236T>A
  • NM_001408498.1:c.524-1236T>A
  • NM_001408499.1:c.524-1236T>A
  • NM_001408500.1:c.524-1236T>A
  • NM_001408501.1:c.524-1236T>A
  • NM_001408502.1:c.455-1236T>A
  • NM_001408503.1:c.521-1236T>A
  • NM_001408504.1:c.521-1236T>A
  • NM_001408505.1:c.521-1236T>A
  • NM_001408506.1:c.461-1236T>A
  • NM_001408507.1:c.461-1236T>A
  • NM_001408508.1:c.452-1236T>A
  • NM_001408509.1:c.452-1236T>A
  • NM_001408510.1:c.407-1236T>A
  • NM_001408511.1:c.404-1236T>A
  • NM_001408512.1:c.284-1236T>A
  • NM_001408513.1:c.578-1236T>A
  • NM_001408514.1:c.578-1236T>A
  • NM_007294.4:c.3263T>AMANE SELECT
  • NM_007297.4:c.3122T>A
  • NM_007298.4:c.788-1236T>A
  • NM_007299.4:c.788-1236T>A
  • NM_007300.4:c.3263T>A
  • NP_001394500.1:p.Val1017Asp
  • NP_001394510.1:p.Val1088Asp
  • NP_001394511.1:p.Val1088Asp
  • NP_001394512.1:p.Val1088Asp
  • NP_001394514.1:p.Val1088Asp
  • NP_001394516.1:p.Val1087Asp
  • NP_001394519.1:p.Val1087Asp
  • NP_001394520.1:p.Val1087Asp
  • NP_001394522.1:p.Val1088Asp
  • NP_001394523.1:p.Val1088Asp
  • NP_001394525.1:p.Val1088Asp
  • NP_001394526.1:p.Val1088Asp
  • NP_001394527.1:p.Val1088Asp
  • NP_001394531.1:p.Val1088Asp
  • NP_001394532.1:p.Val1088Asp
  • NP_001394534.1:p.Val1088Asp
  • NP_001394539.1:p.Val1087Asp
  • NP_001394540.1:p.Val1087Asp
  • NP_001394541.1:p.Val1087Asp
  • NP_001394542.1:p.Val1087Asp
  • NP_001394543.1:p.Val1087Asp
  • NP_001394544.1:p.Val1087Asp
  • NP_001394545.1:p.Val1088Asp
  • NP_001394546.1:p.Val1088Asp
  • NP_001394547.1:p.Val1088Asp
  • NP_001394548.1:p.Val1088Asp
  • NP_001394549.1:p.Val1088Asp
  • NP_001394550.1:p.Val1088Asp
  • NP_001394551.1:p.Val1088Asp
  • NP_001394552.1:p.Val1088Asp
  • NP_001394553.1:p.Val1088Asp
  • NP_001394554.1:p.Val1088Asp
  • NP_001394555.1:p.Val1088Asp
  • NP_001394556.1:p.Val1087Asp
  • NP_001394557.1:p.Val1087Asp
  • NP_001394558.1:p.Val1087Asp
  • NP_001394559.1:p.Val1087Asp
  • NP_001394560.1:p.Val1087Asp
  • NP_001394561.1:p.Val1087Asp
  • NP_001394562.1:p.Val1087Asp
  • NP_001394563.1:p.Val1087Asp
  • NP_001394564.1:p.Val1087Asp
  • NP_001394565.1:p.Val1087Asp
  • NP_001394566.1:p.Val1087Asp
  • NP_001394567.1:p.Val1087Asp
  • NP_001394568.1:p.Val1088Asp
  • NP_001394569.1:p.Val1088Asp
  • NP_001394570.1:p.Val1088Asp
  • NP_001394571.1:p.Val1088Asp
  • NP_001394573.1:p.Val1087Asp
  • NP_001394574.1:p.Val1087Asp
  • NP_001394575.1:p.Val1085Asp
  • NP_001394576.1:p.Val1085Asp
  • NP_001394577.1:p.Val1047Asp
  • NP_001394578.1:p.Val1046Asp
  • NP_001394581.1:p.Val1088Asp
  • NP_001394582.1:p.Val1062Asp
  • NP_001394583.1:p.Val1062Asp
  • NP_001394584.1:p.Val1062Asp
  • NP_001394585.1:p.Val1062Asp
  • NP_001394586.1:p.Val1062Asp
  • NP_001394587.1:p.Val1062Asp
  • NP_001394588.1:p.Val1061Asp
  • NP_001394589.1:p.Val1061Asp
  • NP_001394590.1:p.Val1061Asp
  • NP_001394591.1:p.Val1061Asp
  • NP_001394592.1:p.Val1062Asp
  • NP_001394593.1:p.Val1047Asp
  • NP_001394594.1:p.Val1047Asp
  • NP_001394595.1:p.Val1047Asp
  • NP_001394596.1:p.Val1047Asp
  • NP_001394597.1:p.Val1047Asp
  • NP_001394598.1:p.Val1047Asp
  • NP_001394599.1:p.Val1046Asp
  • NP_001394600.1:p.Val1046Asp
  • NP_001394601.1:p.Val1046Asp
  • NP_001394602.1:p.Val1046Asp
  • NP_001394603.1:p.Val1047Asp
  • NP_001394604.1:p.Val1047Asp
  • NP_001394605.1:p.Val1047Asp
  • NP_001394606.1:p.Val1047Asp
  • NP_001394607.1:p.Val1047Asp
  • NP_001394608.1:p.Val1047Asp
  • NP_001394609.1:p.Val1047Asp
  • NP_001394610.1:p.Val1047Asp
  • NP_001394611.1:p.Val1047Asp
  • NP_001394612.1:p.Val1047Asp
  • NP_001394613.1:p.Val1088Asp
  • NP_001394614.1:p.Val1046Asp
  • NP_001394615.1:p.Val1046Asp
  • NP_001394616.1:p.Val1046Asp
  • NP_001394617.1:p.Val1046Asp
  • NP_001394618.1:p.Val1046Asp
  • NP_001394619.1:p.Val1046Asp
  • NP_001394620.1:p.Val1046Asp
  • NP_001394621.1:p.Val1041Asp
  • NP_001394623.1:p.Val1041Asp
  • NP_001394624.1:p.Val1041Asp
  • NP_001394625.1:p.Val1041Asp
  • NP_001394626.1:p.Val1041Asp
  • NP_001394627.1:p.Val1041Asp
  • NP_001394653.1:p.Val1041Asp
  • NP_001394654.1:p.Val1041Asp
  • NP_001394655.1:p.Val1041Asp
  • NP_001394656.1:p.Val1041Asp
  • NP_001394657.1:p.Val1041Asp
  • NP_001394658.1:p.Val1041Asp
  • NP_001394659.1:p.Val1041Asp
  • NP_001394660.1:p.Val1041Asp
  • NP_001394661.1:p.Val1041Asp
  • NP_001394662.1:p.Val1041Asp
  • NP_001394663.1:p.Val1041Asp
  • NP_001394664.1:p.Val1041Asp
  • NP_001394665.1:p.Val1041Asp
  • NP_001394666.1:p.Val1041Asp
  • NP_001394667.1:p.Val1041Asp
  • NP_001394668.1:p.Val1041Asp
  • NP_001394669.1:p.Val1040Asp
  • NP_001394670.1:p.Val1040Asp
  • NP_001394671.1:p.Val1040Asp
  • NP_001394672.1:p.Val1040Asp
  • NP_001394673.1:p.Val1040Asp
  • NP_001394674.1:p.Val1040Asp
  • NP_001394675.1:p.Val1040Asp
  • NP_001394676.1:p.Val1040Asp
  • NP_001394677.1:p.Val1040Asp
  • NP_001394678.1:p.Val1040Asp
  • NP_001394679.1:p.Val1041Asp
  • NP_001394680.1:p.Val1041Asp
  • NP_001394681.1:p.Val1041Asp
  • NP_001394767.1:p.Val1040Asp
  • NP_001394768.1:p.Val1040Asp
  • NP_001394770.1:p.Val1040Asp
  • NP_001394771.1:p.Val1040Asp
  • NP_001394772.1:p.Val1040Asp
  • NP_001394773.1:p.Val1040Asp
  • NP_001394774.1:p.Val1040Asp
  • NP_001394775.1:p.Val1040Asp
  • NP_001394776.1:p.Val1040Asp
  • NP_001394777.1:p.Val1040Asp
  • NP_001394778.1:p.Val1040Asp
  • NP_001394779.1:p.Val1041Asp
  • NP_001394780.1:p.Val1041Asp
  • NP_001394781.1:p.Val1041Asp
  • NP_001394782.1:p.Val1017Asp
  • NP_001394783.1:p.Val1088Asp
  • NP_001394787.1:p.Val1088Asp
  • NP_001394788.1:p.Val1088Asp
  • NP_001394789.1:p.Val1087Asp
  • NP_001394790.1:p.Val1087Asp
  • NP_001394791.1:p.Val1021Asp
  • NP_001394792.1:p.Val1047Asp
  • NP_001394803.1:p.Val1020Asp
  • NP_001394804.1:p.Val1020Asp
  • NP_001394808.1:p.Val1018Asp
  • NP_001394810.1:p.Val1018Asp
  • NP_001394811.1:p.Val1018Asp
  • NP_001394813.1:p.Val1018Asp
  • NP_001394814.1:p.Val1018Asp
  • NP_001394815.1:p.Val1018Asp
  • NP_001394816.1:p.Val1018Asp
  • NP_001394818.1:p.Val1018Asp
  • NP_001394823.1:p.Val1017Asp
  • NP_001394824.1:p.Val1017Asp
  • NP_001394825.1:p.Val1017Asp
  • NP_001394826.1:p.Val1017Asp
  • NP_001394827.1:p.Val1017Asp
  • NP_001394828.1:p.Val1017Asp
  • NP_001394829.1:p.Val1018Asp
  • NP_001394831.1:p.Val1018Asp
  • NP_001394833.1:p.Val1018Asp
  • NP_001394835.1:p.Val1018Asp
  • NP_001394836.1:p.Val1018Asp
  • NP_001394837.1:p.Val1018Asp
  • NP_001394838.1:p.Val1018Asp
  • NP_001394839.1:p.Val1018Asp
  • NP_001394844.1:p.Val1017Asp
  • NP_001394845.1:p.Val1017Asp
  • NP_001394846.1:p.Val1017Asp
  • NP_001394847.1:p.Val1017Asp
  • NP_001394848.1:p.Val1047Asp
  • NP_001394849.1:p.Val1000Asp
  • NP_001394850.1:p.Val1000Asp
  • NP_001394851.1:p.Val1000Asp
  • NP_001394852.1:p.Val1000Asp
  • NP_001394853.1:p.Val1000Asp
  • NP_001394854.1:p.Val1000Asp
  • NP_001394855.1:p.Val1000Asp
  • NP_001394856.1:p.Val1000Asp
  • NP_001394857.1:p.Val1000Asp
  • NP_001394858.1:p.Val1000Asp
  • NP_001394859.1:p.Val999Asp
  • NP_001394860.1:p.Val999Asp
  • NP_001394861.1:p.Val999Asp
  • NP_001394862.1:p.Val1000Asp
  • NP_001394863.1:p.Val999Asp
  • NP_001394864.1:p.Val1000Asp
  • NP_001394865.1:p.Val999Asp
  • NP_001394866.1:p.Val1047Asp
  • NP_001394867.1:p.Val1047Asp
  • NP_001394868.1:p.Val1047Asp
  • NP_001394869.1:p.Val1046Asp
  • NP_001394870.1:p.Val1046Asp
  • NP_001394871.1:p.Val1041Asp
  • NP_001394872.1:p.Val1040Asp
  • NP_001394873.1:p.Val1041Asp
  • NP_001394874.1:p.Val1041Asp
  • NP_001394875.1:p.Val977Asp
  • NP_001394876.1:p.Val977Asp
  • NP_001394877.1:p.Val977Asp
  • NP_001394878.1:p.Val977Asp
  • NP_001394879.1:p.Val977Asp
  • NP_001394880.1:p.Val977Asp
  • NP_001394881.1:p.Val977Asp
  • NP_001394882.1:p.Val977Asp
  • NP_001394883.1:p.Val976Asp
  • NP_001394884.1:p.Val976Asp
  • NP_001394885.1:p.Val976Asp
  • NP_001394886.1:p.Val977Asp
  • NP_001394887.1:p.Val976Asp
  • NP_001394888.1:p.Val961Asp
  • NP_001394889.1:p.Val961Asp
  • NP_001394891.1:p.Val960Asp
  • NP_001394892.1:p.Val961Asp
  • NP_001394893.1:p.Val1040Asp
  • NP_001394894.1:p.Val920Asp
  • NP_001394895.1:p.Val792Asp
  • NP_001394896.1:p.Val792Asp
  • NP_009225.1:p.Val1088Asp
  • NP_009225.1:p.Val1088Asp
  • NP_009228.2:p.Val1041Asp
  • NP_009231.2:p.Val1088Asp
  • LRG_292t1:c.3263T>A
  • LRG_292:g.125716T>A
  • LRG_292p1:p.Val1088Asp
  • NC_000017.10:g.41244285A>T
  • NM_007294.3:c.3263T>A
  • NM_007294.4:c.3263T>A
  • NR_027676.1:n.3399T>A
  • U14680.1:n.3382T>A
Protein change:
V1000D
Links:
dbSNP: rs80356901
NCBI 1000 Genomes Browser:
rs80356901
Molecular consequence:
  • NM_001407968.1:c.788-129T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-129T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1245T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1236T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3254T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3254T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3185T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3185T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3185T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3185T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3185T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3185T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3182T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3182T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3182T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3182T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3185T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3260T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3062T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3059T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3059T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3053T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3050T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2996T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2996T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2996T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2996T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2999T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2996T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3140T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3137T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2930T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2930T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2930T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2930T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2930T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2930T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2930T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2930T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2927T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2927T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2927T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2930T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2927T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2882T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2882T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2879T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2882T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3119T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2759T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2375T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2375T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3122T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3263T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001559930Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 3, 2022) 		germlineclinical testing

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

SCV002025960National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 16, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001559930.3

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

Description

This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1088 of the BRCA1 protein (p.Val1088Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 54814). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002025960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024