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NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:
Nov 20, 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:
RCV000031085.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)]

NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)
HGVS:
  • NC_000017.11:g.43092476T>C
  • NG_005905.2:g.125508A>G
  • NM_001407571.1:c.2842A>G
  • NM_001407581.1:c.3055A>G
  • NM_001407582.1:c.3055A>G
  • NM_001407583.1:c.3055A>G
  • NM_001407585.1:c.3055A>G
  • NM_001407587.1:c.3052A>G
  • NM_001407590.1:c.3052A>G
  • NM_001407591.1:c.3052A>G
  • NM_001407593.1:c.3055A>G
  • NM_001407594.1:c.3055A>G
  • NM_001407596.1:c.3055A>G
  • NM_001407597.1:c.3055A>G
  • NM_001407598.1:c.3055A>G
  • NM_001407602.1:c.3055A>G
  • NM_001407603.1:c.3055A>G
  • NM_001407605.1:c.3055A>G
  • NM_001407610.1:c.3052A>G
  • NM_001407611.1:c.3052A>G
  • NM_001407612.1:c.3052A>G
  • NM_001407613.1:c.3052A>G
  • NM_001407614.1:c.3052A>G
  • NM_001407615.1:c.3052A>G
  • NM_001407616.1:c.3055A>G
  • NM_001407617.1:c.3055A>G
  • NM_001407618.1:c.3055A>G
  • NM_001407619.1:c.3055A>G
  • NM_001407620.1:c.3055A>G
  • NM_001407621.1:c.3055A>G
  • NM_001407622.1:c.3055A>G
  • NM_001407623.1:c.3055A>G
  • NM_001407624.1:c.3055A>G
  • NM_001407625.1:c.3055A>G
  • NM_001407626.1:c.3055A>G
  • NM_001407627.1:c.3052A>G
  • NM_001407628.1:c.3052A>G
  • NM_001407629.1:c.3052A>G
  • NM_001407630.1:c.3052A>G
  • NM_001407631.1:c.3052A>G
  • NM_001407632.1:c.3052A>G
  • NM_001407633.1:c.3052A>G
  • NM_001407634.1:c.3052A>G
  • NM_001407635.1:c.3052A>G
  • NM_001407636.1:c.3052A>G
  • NM_001407637.1:c.3052A>G
  • NM_001407638.1:c.3052A>G
  • NM_001407639.1:c.3055A>G
  • NM_001407640.1:c.3055A>G
  • NM_001407641.1:c.3055A>G
  • NM_001407642.1:c.3055A>G
  • NM_001407644.1:c.3052A>G
  • NM_001407645.1:c.3052A>G
  • NM_001407646.1:c.3046A>G
  • NM_001407647.1:c.3046A>G
  • NM_001407648.1:c.2932A>G
  • NM_001407649.1:c.2929A>G
  • NM_001407652.1:c.3055A>G
  • NM_001407653.1:c.2977A>G
  • NM_001407654.1:c.2977A>G
  • NM_001407655.1:c.2977A>G
  • NM_001407656.1:c.2977A>G
  • NM_001407657.1:c.2977A>G
  • NM_001407658.1:c.2977A>G
  • NM_001407659.1:c.2974A>G
  • NM_001407660.1:c.2974A>G
  • NM_001407661.1:c.2974A>G
  • NM_001407662.1:c.2974A>G
  • NM_001407663.1:c.2977A>G
  • NM_001407664.1:c.2932A>G
  • NM_001407665.1:c.2932A>G
  • NM_001407666.1:c.2932A>G
  • NM_001407667.1:c.2932A>G
  • NM_001407668.1:c.2932A>G
  • NM_001407669.1:c.2932A>G
  • NM_001407670.1:c.2929A>G
  • NM_001407671.1:c.2929A>G
  • NM_001407672.1:c.2929A>G
  • NM_001407673.1:c.2929A>G
  • NM_001407674.1:c.2932A>G
  • NM_001407675.1:c.2932A>G
  • NM_001407676.1:c.2932A>G
  • NM_001407677.1:c.2932A>G
  • NM_001407678.1:c.2932A>G
  • NM_001407679.1:c.2932A>G
  • NM_001407680.1:c.2932A>G
  • NM_001407681.1:c.2932A>G
  • NM_001407682.1:c.2932A>G
  • NM_001407683.1:c.2932A>G
  • NM_001407684.1:c.3055A>G
  • NM_001407685.1:c.2929A>G
  • NM_001407686.1:c.2929A>G
  • NM_001407687.1:c.2929A>G
  • NM_001407688.1:c.2929A>G
  • NM_001407689.1:c.2929A>G
  • NM_001407690.1:c.2929A>G
  • NM_001407691.1:c.2929A>G
  • NM_001407692.1:c.2914A>G
  • NM_001407694.1:c.2914A>G
  • NM_001407695.1:c.2914A>G
  • NM_001407696.1:c.2914A>G
  • NM_001407697.1:c.2914A>G
  • NM_001407698.1:c.2914A>G
  • NM_001407724.1:c.2914A>G
  • NM_001407725.1:c.2914A>G
  • NM_001407726.1:c.2914A>G
  • NM_001407727.1:c.2914A>G
  • NM_001407728.1:c.2914A>G
  • NM_001407729.1:c.2914A>G
  • NM_001407730.1:c.2914A>G
  • NM_001407731.1:c.2914A>G
  • NM_001407732.1:c.2914A>G
  • NM_001407733.1:c.2914A>G
  • NM_001407734.1:c.2914A>G
  • NM_001407735.1:c.2914A>G
  • NM_001407736.1:c.2914A>G
  • NM_001407737.1:c.2914A>G
  • NM_001407738.1:c.2914A>G
  • NM_001407739.1:c.2914A>G
  • NM_001407740.1:c.2911A>G
  • NM_001407741.1:c.2911A>G
  • NM_001407742.1:c.2911A>G
  • NM_001407743.1:c.2911A>G
  • NM_001407744.1:c.2911A>G
  • NM_001407745.1:c.2911A>G
  • NM_001407746.1:c.2911A>G
  • NM_001407747.1:c.2911A>G
  • NM_001407748.1:c.2911A>G
  • NM_001407749.1:c.2911A>G
  • NM_001407750.1:c.2914A>G
  • NM_001407751.1:c.2914A>G
  • NM_001407752.1:c.2914A>G
  • NM_001407838.1:c.2911A>G
  • NM_001407839.1:c.2911A>G
  • NM_001407841.1:c.2911A>G
  • NM_001407842.1:c.2911A>G
  • NM_001407843.1:c.2911A>G
  • NM_001407844.1:c.2911A>G
  • NM_001407845.1:c.2911A>G
  • NM_001407846.1:c.2911A>G
  • NM_001407847.1:c.2911A>G
  • NM_001407848.1:c.2911A>G
  • NM_001407849.1:c.2911A>G
  • NM_001407850.1:c.2914A>G
  • NM_001407851.1:c.2914A>G
  • NM_001407852.1:c.2914A>G
  • NM_001407853.1:c.2842A>G
  • NM_001407854.1:c.3055A>G
  • NM_001407858.1:c.3055A>G
  • NM_001407859.1:c.3055A>G
  • NM_001407860.1:c.3052A>G
  • NM_001407861.1:c.3052A>G
  • NM_001407862.1:c.2854A>G
  • NM_001407863.1:c.2932A>G
  • NM_001407874.1:c.2851A>G
  • NM_001407875.1:c.2851A>G
  • NM_001407879.1:c.2845A>G
  • NM_001407881.1:c.2845A>G
  • NM_001407882.1:c.2845A>G
  • NM_001407884.1:c.2845A>G
  • NM_001407885.1:c.2845A>G
  • NM_001407886.1:c.2845A>G
  • NM_001407887.1:c.2845A>G
  • NM_001407889.1:c.2845A>G
  • NM_001407894.1:c.2842A>G
  • NM_001407895.1:c.2842A>G
  • NM_001407896.1:c.2842A>G
  • NM_001407897.1:c.2842A>G
  • NM_001407898.1:c.2842A>G
  • NM_001407899.1:c.2842A>G
  • NM_001407900.1:c.2845A>G
  • NM_001407902.1:c.2845A>G
  • NM_001407904.1:c.2845A>G
  • NM_001407906.1:c.2845A>G
  • NM_001407907.1:c.2845A>G
  • NM_001407908.1:c.2845A>G
  • NM_001407909.1:c.2845A>G
  • NM_001407910.1:c.2845A>G
  • NM_001407915.1:c.2842A>G
  • NM_001407916.1:c.2842A>G
  • NM_001407917.1:c.2842A>G
  • NM_001407918.1:c.2842A>G
  • NM_001407919.1:c.2932A>G
  • NM_001407920.1:c.2791A>G
  • NM_001407921.1:c.2791A>G
  • NM_001407922.1:c.2791A>G
  • NM_001407923.1:c.2791A>G
  • NM_001407924.1:c.2791A>G
  • NM_001407925.1:c.2791A>G
  • NM_001407926.1:c.2791A>G
  • NM_001407927.1:c.2791A>G
  • NM_001407928.1:c.2791A>G
  • NM_001407929.1:c.2791A>G
  • NM_001407930.1:c.2788A>G
  • NM_001407931.1:c.2788A>G
  • NM_001407932.1:c.2788A>G
  • NM_001407933.1:c.2791A>G
  • NM_001407934.1:c.2788A>G
  • NM_001407935.1:c.2791A>G
  • NM_001407936.1:c.2788A>G
  • NM_001407937.1:c.2932A>G
  • NM_001407938.1:c.2932A>G
  • NM_001407939.1:c.2932A>G
  • NM_001407940.1:c.2929A>G
  • NM_001407941.1:c.2929A>G
  • NM_001407942.1:c.2914A>G
  • NM_001407943.1:c.2911A>G
  • NM_001407944.1:c.2914A>G
  • NM_001407945.1:c.2914A>G
  • NM_001407946.1:c.2722A>G
  • NM_001407947.1:c.2722A>G
  • NM_001407948.1:c.2722A>G
  • NM_001407949.1:c.2722A>G
  • NM_001407950.1:c.2722A>G
  • NM_001407951.1:c.2722A>G
  • NM_001407952.1:c.2722A>G
  • NM_001407953.1:c.2722A>G
  • NM_001407954.1:c.2719A>G
  • NM_001407955.1:c.2719A>G
  • NM_001407956.1:c.2719A>G
  • NM_001407957.1:c.2722A>G
  • NM_001407958.1:c.2719A>G
  • NM_001407959.1:c.2674A>G
  • NM_001407960.1:c.2674A>G
  • NM_001407962.1:c.2671A>G
  • NM_001407963.1:c.2674A>G
  • NM_001407964.1:c.2911A>G
  • NM_001407965.1:c.2551A>G
  • NM_001407966.1:c.2167A>G
  • NM_001407967.1:c.2167A>G
  • NM_001407968.1:c.788-337A>G
  • NM_001407969.1:c.788-337A>G
  • NM_001407970.1:c.788-1444A>G
  • NM_001407971.1:c.788-1444A>G
  • NM_001407972.1:c.785-1444A>G
  • NM_001407973.1:c.788-1444A>G
  • NM_001407974.1:c.788-1444A>G
  • NM_001407975.1:c.788-1444A>G
  • NM_001407976.1:c.788-1444A>G
  • NM_001407977.1:c.788-1444A>G
  • NM_001407978.1:c.788-1444A>G
  • NM_001407979.1:c.788-1444A>G
  • NM_001407980.1:c.788-1444A>G
  • NM_001407981.1:c.788-1444A>G
  • NM_001407982.1:c.788-1444A>G
  • NM_001407983.1:c.788-1444A>G
  • NM_001407984.1:c.785-1444A>G
  • NM_001407985.1:c.785-1444A>G
  • NM_001407986.1:c.785-1444A>G
  • NM_001407990.1:c.788-1444A>G
  • NM_001407991.1:c.785-1444A>G
  • NM_001407992.1:c.785-1444A>G
  • NM_001407993.1:c.788-1444A>G
  • NM_001408392.1:c.785-1444A>G
  • NM_001408396.1:c.785-1444A>G
  • NM_001408397.1:c.785-1444A>G
  • NM_001408398.1:c.785-1444A>G
  • NM_001408399.1:c.785-1444A>G
  • NM_001408400.1:c.785-1444A>G
  • NM_001408401.1:c.785-1444A>G
  • NM_001408402.1:c.785-1444A>G
  • NM_001408403.1:c.788-1444A>G
  • NM_001408404.1:c.788-1444A>G
  • NM_001408406.1:c.791-1453A>G
  • NM_001408407.1:c.785-1444A>G
  • NM_001408408.1:c.779-1444A>G
  • NM_001408409.1:c.710-1444A>G
  • NM_001408410.1:c.647-1444A>G
  • NM_001408411.1:c.710-1444A>G
  • NM_001408412.1:c.710-1444A>G
  • NM_001408413.1:c.707-1444A>G
  • NM_001408414.1:c.710-1444A>G
  • NM_001408415.1:c.710-1444A>G
  • NM_001408416.1:c.707-1444A>G
  • NM_001408418.1:c.671-1444A>G
  • NM_001408419.1:c.671-1444A>G
  • NM_001408420.1:c.671-1444A>G
  • NM_001408421.1:c.668-1444A>G
  • NM_001408422.1:c.671-1444A>G
  • NM_001408423.1:c.671-1444A>G
  • NM_001408424.1:c.668-1444A>G
  • NM_001408425.1:c.665-1444A>G
  • NM_001408426.1:c.665-1444A>G
  • NM_001408427.1:c.665-1444A>G
  • NM_001408428.1:c.665-1444A>G
  • NM_001408429.1:c.665-1444A>G
  • NM_001408430.1:c.665-1444A>G
  • NM_001408431.1:c.668-1444A>G
  • NM_001408432.1:c.662-1444A>G
  • NM_001408433.1:c.662-1444A>G
  • NM_001408434.1:c.662-1444A>G
  • NM_001408435.1:c.662-1444A>G
  • NM_001408436.1:c.665-1444A>G
  • NM_001408437.1:c.665-1444A>G
  • NM_001408438.1:c.665-1444A>G
  • NM_001408439.1:c.665-1444A>G
  • NM_001408440.1:c.665-1444A>G
  • NM_001408441.1:c.665-1444A>G
  • NM_001408442.1:c.665-1444A>G
  • NM_001408443.1:c.665-1444A>G
  • NM_001408444.1:c.665-1444A>G
  • NM_001408445.1:c.662-1444A>G
  • NM_001408446.1:c.662-1444A>G
  • NM_001408447.1:c.662-1444A>G
  • NM_001408448.1:c.662-1444A>G
  • NM_001408450.1:c.662-1444A>G
  • NM_001408451.1:c.653-1444A>G
  • NM_001408452.1:c.647-1444A>G
  • NM_001408453.1:c.647-1444A>G
  • NM_001408454.1:c.647-1444A>G
  • NM_001408455.1:c.647-1444A>G
  • NM_001408456.1:c.647-1444A>G
  • NM_001408457.1:c.647-1444A>G
  • NM_001408458.1:c.647-1444A>G
  • NM_001408459.1:c.647-1444A>G
  • NM_001408460.1:c.647-1444A>G
  • NM_001408461.1:c.647-1444A>G
  • NM_001408462.1:c.644-1444A>G
  • NM_001408463.1:c.644-1444A>G
  • NM_001408464.1:c.644-1444A>G
  • NM_001408465.1:c.644-1444A>G
  • NM_001408466.1:c.647-1444A>G
  • NM_001408467.1:c.647-1444A>G
  • NM_001408468.1:c.644-1444A>G
  • NM_001408469.1:c.647-1444A>G
  • NM_001408470.1:c.644-1444A>G
  • NM_001408472.1:c.788-1444A>G
  • NM_001408473.1:c.785-1444A>G
  • NM_001408474.1:c.587-1444A>G
  • NM_001408475.1:c.584-1444A>G
  • NM_001408476.1:c.587-1444A>G
  • NM_001408478.1:c.578-1444A>G
  • NM_001408479.1:c.578-1444A>G
  • NM_001408480.1:c.578-1444A>G
  • NM_001408481.1:c.578-1444A>G
  • NM_001408482.1:c.578-1444A>G
  • NM_001408483.1:c.578-1444A>G
  • NM_001408484.1:c.578-1444A>G
  • NM_001408485.1:c.578-1444A>G
  • NM_001408489.1:c.578-1444A>G
  • NM_001408490.1:c.575-1444A>G
  • NM_001408491.1:c.575-1444A>G
  • NM_001408492.1:c.578-1444A>G
  • NM_001408493.1:c.575-1444A>G
  • NM_001408494.1:c.548-1444A>G
  • NM_001408495.1:c.545-1444A>G
  • NM_001408496.1:c.524-1444A>G
  • NM_001408497.1:c.524-1444A>G
  • NM_001408498.1:c.524-1444A>G
  • NM_001408499.1:c.524-1444A>G
  • NM_001408500.1:c.524-1444A>G
  • NM_001408501.1:c.524-1444A>G
  • NM_001408502.1:c.455-1444A>G
  • NM_001408503.1:c.521-1444A>G
  • NM_001408504.1:c.521-1444A>G
  • NM_001408505.1:c.521-1444A>G
  • NM_001408506.1:c.461-1444A>G
  • NM_001408507.1:c.461-1444A>G
  • NM_001408508.1:c.452-1444A>G
  • NM_001408509.1:c.452-1444A>G
  • NM_001408510.1:c.407-1444A>G
  • NM_001408511.1:c.404-1444A>G
  • NM_001408512.1:c.284-1444A>G
  • NM_001408513.1:c.578-1444A>G
  • NM_001408514.1:c.578-1444A>G
  • NM_007294.4:c.3055A>GMANE SELECT
  • NM_007297.4:c.2914A>G
  • NM_007298.4:c.788-1444A>G
  • NM_007299.4:c.788-1444A>G
  • NM_007300.4:c.3055A>G
  • NP_001394500.1:p.Ile948Val
  • NP_001394510.1:p.Ile1019Val
  • NP_001394511.1:p.Ile1019Val
  • NP_001394512.1:p.Ile1019Val
  • NP_001394514.1:p.Ile1019Val
  • NP_001394516.1:p.Ile1018Val
  • NP_001394519.1:p.Ile1018Val
  • NP_001394520.1:p.Ile1018Val
  • NP_001394522.1:p.Ile1019Val
  • NP_001394523.1:p.Ile1019Val
  • NP_001394525.1:p.Ile1019Val
  • NP_001394526.1:p.Ile1019Val
  • NP_001394527.1:p.Ile1019Val
  • NP_001394531.1:p.Ile1019Val
  • NP_001394532.1:p.Ile1019Val
  • NP_001394534.1:p.Ile1019Val
  • NP_001394539.1:p.Ile1018Val
  • NP_001394540.1:p.Ile1018Val
  • NP_001394541.1:p.Ile1018Val
  • NP_001394542.1:p.Ile1018Val
  • NP_001394543.1:p.Ile1018Val
  • NP_001394544.1:p.Ile1018Val
  • NP_001394545.1:p.Ile1019Val
  • NP_001394546.1:p.Ile1019Val
  • NP_001394547.1:p.Ile1019Val
  • NP_001394548.1:p.Ile1019Val
  • NP_001394549.1:p.Ile1019Val
  • NP_001394550.1:p.Ile1019Val
  • NP_001394551.1:p.Ile1019Val
  • NP_001394552.1:p.Ile1019Val
  • NP_001394553.1:p.Ile1019Val
  • NP_001394554.1:p.Ile1019Val
  • NP_001394555.1:p.Ile1019Val
  • NP_001394556.1:p.Ile1018Val
  • NP_001394557.1:p.Ile1018Val
  • NP_001394558.1:p.Ile1018Val
  • NP_001394559.1:p.Ile1018Val
  • NP_001394560.1:p.Ile1018Val
  • NP_001394561.1:p.Ile1018Val
  • NP_001394562.1:p.Ile1018Val
  • NP_001394563.1:p.Ile1018Val
  • NP_001394564.1:p.Ile1018Val
  • NP_001394565.1:p.Ile1018Val
  • NP_001394566.1:p.Ile1018Val
  • NP_001394567.1:p.Ile1018Val
  • NP_001394568.1:p.Ile1019Val
  • NP_001394569.1:p.Ile1019Val
  • NP_001394570.1:p.Ile1019Val
  • NP_001394571.1:p.Ile1019Val
  • NP_001394573.1:p.Ile1018Val
  • NP_001394574.1:p.Ile1018Val
  • NP_001394575.1:p.Ile1016Val
  • NP_001394576.1:p.Ile1016Val
  • NP_001394577.1:p.Ile978Val
  • NP_001394578.1:p.Ile977Val
  • NP_001394581.1:p.Ile1019Val
  • NP_001394582.1:p.Ile993Val
  • NP_001394583.1:p.Ile993Val
  • NP_001394584.1:p.Ile993Val
  • NP_001394585.1:p.Ile993Val
  • NP_001394586.1:p.Ile993Val
  • NP_001394587.1:p.Ile993Val
  • NP_001394588.1:p.Ile992Val
  • NP_001394589.1:p.Ile992Val
  • NP_001394590.1:p.Ile992Val
  • NP_001394591.1:p.Ile992Val
  • NP_001394592.1:p.Ile993Val
  • NP_001394593.1:p.Ile978Val
  • NP_001394594.1:p.Ile978Val
  • NP_001394595.1:p.Ile978Val
  • NP_001394596.1:p.Ile978Val
  • NP_001394597.1:p.Ile978Val
  • NP_001394598.1:p.Ile978Val
  • NP_001394599.1:p.Ile977Val
  • NP_001394600.1:p.Ile977Val
  • NP_001394601.1:p.Ile977Val
  • NP_001394602.1:p.Ile977Val
  • NP_001394603.1:p.Ile978Val
  • NP_001394604.1:p.Ile978Val
  • NP_001394605.1:p.Ile978Val
  • NP_001394606.1:p.Ile978Val
  • NP_001394607.1:p.Ile978Val
  • NP_001394608.1:p.Ile978Val
  • NP_001394609.1:p.Ile978Val
  • NP_001394610.1:p.Ile978Val
  • NP_001394611.1:p.Ile978Val
  • NP_001394612.1:p.Ile978Val
  • NP_001394613.1:p.Ile1019Val
  • NP_001394614.1:p.Ile977Val
  • NP_001394615.1:p.Ile977Val
  • NP_001394616.1:p.Ile977Val
  • NP_001394617.1:p.Ile977Val
  • NP_001394618.1:p.Ile977Val
  • NP_001394619.1:p.Ile977Val
  • NP_001394620.1:p.Ile977Val
  • NP_001394621.1:p.Ile972Val
  • NP_001394623.1:p.Ile972Val
  • NP_001394624.1:p.Ile972Val
  • NP_001394625.1:p.Ile972Val
  • NP_001394626.1:p.Ile972Val
  • NP_001394627.1:p.Ile972Val
  • NP_001394653.1:p.Ile972Val
  • NP_001394654.1:p.Ile972Val
  • NP_001394655.1:p.Ile972Val
  • NP_001394656.1:p.Ile972Val
  • NP_001394657.1:p.Ile972Val
  • NP_001394658.1:p.Ile972Val
  • NP_001394659.1:p.Ile972Val
  • NP_001394660.1:p.Ile972Val
  • NP_001394661.1:p.Ile972Val
  • NP_001394662.1:p.Ile972Val
  • NP_001394663.1:p.Ile972Val
  • NP_001394664.1:p.Ile972Val
  • NP_001394665.1:p.Ile972Val
  • NP_001394666.1:p.Ile972Val
  • NP_001394667.1:p.Ile972Val
  • NP_001394668.1:p.Ile972Val
  • NP_001394669.1:p.Ile971Val
  • NP_001394670.1:p.Ile971Val
  • NP_001394671.1:p.Ile971Val
  • NP_001394672.1:p.Ile971Val
  • NP_001394673.1:p.Ile971Val
  • NP_001394674.1:p.Ile971Val
  • NP_001394675.1:p.Ile971Val
  • NP_001394676.1:p.Ile971Val
  • NP_001394677.1:p.Ile971Val
  • NP_001394678.1:p.Ile971Val
  • NP_001394679.1:p.Ile972Val
  • NP_001394680.1:p.Ile972Val
  • NP_001394681.1:p.Ile972Val
  • NP_001394767.1:p.Ile971Val
  • NP_001394768.1:p.Ile971Val
  • NP_001394770.1:p.Ile971Val
  • NP_001394771.1:p.Ile971Val
  • NP_001394772.1:p.Ile971Val
  • NP_001394773.1:p.Ile971Val
  • NP_001394774.1:p.Ile971Val
  • NP_001394775.1:p.Ile971Val
  • NP_001394776.1:p.Ile971Val
  • NP_001394777.1:p.Ile971Val
  • NP_001394778.1:p.Ile971Val
  • NP_001394779.1:p.Ile972Val
  • NP_001394780.1:p.Ile972Val
  • NP_001394781.1:p.Ile972Val
  • NP_001394782.1:p.Ile948Val
  • NP_001394783.1:p.Ile1019Val
  • NP_001394787.1:p.Ile1019Val
  • NP_001394788.1:p.Ile1019Val
  • NP_001394789.1:p.Ile1018Val
  • NP_001394790.1:p.Ile1018Val
  • NP_001394791.1:p.Ile952Val
  • NP_001394792.1:p.Ile978Val
  • NP_001394803.1:p.Ile951Val
  • NP_001394804.1:p.Ile951Val
  • NP_001394808.1:p.Ile949Val
  • NP_001394810.1:p.Ile949Val
  • NP_001394811.1:p.Ile949Val
  • NP_001394813.1:p.Ile949Val
  • NP_001394814.1:p.Ile949Val
  • NP_001394815.1:p.Ile949Val
  • NP_001394816.1:p.Ile949Val
  • NP_001394818.1:p.Ile949Val
  • NP_001394823.1:p.Ile948Val
  • NP_001394824.1:p.Ile948Val
  • NP_001394825.1:p.Ile948Val
  • NP_001394826.1:p.Ile948Val
  • NP_001394827.1:p.Ile948Val
  • NP_001394828.1:p.Ile948Val
  • NP_001394829.1:p.Ile949Val
  • NP_001394831.1:p.Ile949Val
  • NP_001394833.1:p.Ile949Val
  • NP_001394835.1:p.Ile949Val
  • NP_001394836.1:p.Ile949Val
  • NP_001394837.1:p.Ile949Val
  • NP_001394838.1:p.Ile949Val
  • NP_001394839.1:p.Ile949Val
  • NP_001394844.1:p.Ile948Val
  • NP_001394845.1:p.Ile948Val
  • NP_001394846.1:p.Ile948Val
  • NP_001394847.1:p.Ile948Val
  • NP_001394848.1:p.Ile978Val
  • NP_001394849.1:p.Ile931Val
  • NP_001394850.1:p.Ile931Val
  • NP_001394851.1:p.Ile931Val
  • NP_001394852.1:p.Ile931Val
  • NP_001394853.1:p.Ile931Val
  • NP_001394854.1:p.Ile931Val
  • NP_001394855.1:p.Ile931Val
  • NP_001394856.1:p.Ile931Val
  • NP_001394857.1:p.Ile931Val
  • NP_001394858.1:p.Ile931Val
  • NP_001394859.1:p.Ile930Val
  • NP_001394860.1:p.Ile930Val
  • NP_001394861.1:p.Ile930Val
  • NP_001394862.1:p.Ile931Val
  • NP_001394863.1:p.Ile930Val
  • NP_001394864.1:p.Ile931Val
  • NP_001394865.1:p.Ile930Val
  • NP_001394866.1:p.Ile978Val
  • NP_001394867.1:p.Ile978Val
  • NP_001394868.1:p.Ile978Val
  • NP_001394869.1:p.Ile977Val
  • NP_001394870.1:p.Ile977Val
  • NP_001394871.1:p.Ile972Val
  • NP_001394872.1:p.Ile971Val
  • NP_001394873.1:p.Ile972Val
  • NP_001394874.1:p.Ile972Val
  • NP_001394875.1:p.Ile908Val
  • NP_001394876.1:p.Ile908Val
  • NP_001394877.1:p.Ile908Val
  • NP_001394878.1:p.Ile908Val
  • NP_001394879.1:p.Ile908Val
  • NP_001394880.1:p.Ile908Val
  • NP_001394881.1:p.Ile908Val
  • NP_001394882.1:p.Ile908Val
  • NP_001394883.1:p.Ile907Val
  • NP_001394884.1:p.Ile907Val
  • NP_001394885.1:p.Ile907Val
  • NP_001394886.1:p.Ile908Val
  • NP_001394887.1:p.Ile907Val
  • NP_001394888.1:p.Ile892Val
  • NP_001394889.1:p.Ile892Val
  • NP_001394891.1:p.Ile891Val
  • NP_001394892.1:p.Ile892Val
  • NP_001394893.1:p.Ile971Val
  • NP_001394894.1:p.Ile851Val
  • NP_001394895.1:p.Ile723Val
  • NP_001394896.1:p.Ile723Val
  • NP_009225.1:p.Ile1019Val
  • NP_009225.1:p.Ile1019Val
  • NP_009228.2:p.Ile972Val
  • NP_009231.2:p.Ile1019Val
  • LRG_292t1:c.3055A>G
  • LRG_292:g.125508A>G
  • LRG_292p1:p.Ile1019Val
  • NC_000017.10:g.41244493T>C
  • NM_007294.3:c.3055A>G
  • NR_027676.1:n.3191A>G
  • U14680.1:n.3174A>G
  • p.I1019V
Nucleotide change:
3174A>G
Protein change:
I1016V
Links:
dbSNP: rs80357311
NCBI 1000 Genomes Browser:
rs80357311
Molecular consequence:
  • NM_001407968.1:c.788-337A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-337A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1453A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1444A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3046A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3046A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2974A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2977A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2854A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2842A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2674A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2674A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2671A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2674A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2551A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
14

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000053681Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Likely benign
(Feb 1, 2010) 		germlineclinical testing

SCV000144626Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Oct 29, 2001) 		germlineclinical testing

SCV000487925Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Dec 10, 2015) 		unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV004815611All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Benign
(Nov 20, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided2not providednot provided2not providedclinical testing
not providedgermlineunknown11not providednot provided108544not providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.

PubMed [citation]
PMID:
15235020
PMCID:
PMC1735826

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036
See all PubMed Citations (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053681.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided2not providednot providednot providednot providednot provided See 1

Co-occurrences

#ZygosityAllelesNumber of Observations
1SingleHeterozygoteBRCA2:7171A>G (I2315V)1

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144626.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Central/Eastern European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000487925.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004815611.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided11not providednot providednot provided

Last Updated: Sep 16, 2024