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NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jun 7, 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:
RCV000164922.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val)]

NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val)

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.3878C>T (p.Ala1293Val)
HGVS:
  • NC_000017.11:g.43091653G>A
  • NG_005905.2:g.126331C>T
  • NG_087068.1:g.635G>A
  • NM_001407571.1:c.3665C>T
  • NM_001407581.1:c.3878C>T
  • NM_001407582.1:c.3878C>T
  • NM_001407583.1:c.3878C>T
  • NM_001407585.1:c.3878C>T
  • NM_001407587.1:c.3875C>T
  • NM_001407590.1:c.3875C>T
  • NM_001407591.1:c.3875C>T
  • NM_001407593.1:c.3878C>T
  • NM_001407594.1:c.3878C>T
  • NM_001407596.1:c.3878C>T
  • NM_001407597.1:c.3878C>T
  • NM_001407598.1:c.3878C>T
  • NM_001407602.1:c.3878C>T
  • NM_001407603.1:c.3878C>T
  • NM_001407605.1:c.3878C>T
  • NM_001407610.1:c.3875C>T
  • NM_001407611.1:c.3875C>T
  • NM_001407612.1:c.3875C>T
  • NM_001407613.1:c.3875C>T
  • NM_001407614.1:c.3875C>T
  • NM_001407615.1:c.3875C>T
  • NM_001407616.1:c.3878C>T
  • NM_001407617.1:c.3878C>T
  • NM_001407618.1:c.3878C>T
  • NM_001407619.1:c.3878C>T
  • NM_001407620.1:c.3878C>T
  • NM_001407621.1:c.3878C>T
  • NM_001407622.1:c.3878C>T
  • NM_001407623.1:c.3878C>T
  • NM_001407624.1:c.3878C>T
  • NM_001407625.1:c.3878C>T
  • NM_001407626.1:c.3878C>T
  • NM_001407627.1:c.3875C>T
  • NM_001407628.1:c.3875C>T
  • NM_001407629.1:c.3875C>T
  • NM_001407630.1:c.3875C>T
  • NM_001407631.1:c.3875C>T
  • NM_001407632.1:c.3875C>T
  • NM_001407633.1:c.3875C>T
  • NM_001407634.1:c.3875C>T
  • NM_001407635.1:c.3875C>T
  • NM_001407636.1:c.3875C>T
  • NM_001407637.1:c.3875C>T
  • NM_001407638.1:c.3875C>T
  • NM_001407639.1:c.3878C>T
  • NM_001407640.1:c.3878C>T
  • NM_001407641.1:c.3878C>T
  • NM_001407642.1:c.3878C>T
  • NM_001407644.1:c.3875C>T
  • NM_001407645.1:c.3875C>T
  • NM_001407646.1:c.3869C>T
  • NM_001407647.1:c.3869C>T
  • NM_001407648.1:c.3755C>T
  • NM_001407649.1:c.3752C>T
  • NM_001407652.1:c.3878C>T
  • NM_001407653.1:c.3800C>T
  • NM_001407654.1:c.3800C>T
  • NM_001407655.1:c.3800C>T
  • NM_001407656.1:c.3800C>T
  • NM_001407657.1:c.3800C>T
  • NM_001407658.1:c.3800C>T
  • NM_001407659.1:c.3797C>T
  • NM_001407660.1:c.3797C>T
  • NM_001407661.1:c.3797C>T
  • NM_001407662.1:c.3797C>T
  • NM_001407663.1:c.3800C>T
  • NM_001407664.1:c.3755C>T
  • NM_001407665.1:c.3755C>T
  • NM_001407666.1:c.3755C>T
  • NM_001407667.1:c.3755C>T
  • NM_001407668.1:c.3755C>T
  • NM_001407669.1:c.3755C>T
  • NM_001407670.1:c.3752C>T
  • NM_001407671.1:c.3752C>T
  • NM_001407672.1:c.3752C>T
  • NM_001407673.1:c.3752C>T
  • NM_001407674.1:c.3755C>T
  • NM_001407675.1:c.3755C>T
  • NM_001407676.1:c.3755C>T
  • NM_001407677.1:c.3755C>T
  • NM_001407678.1:c.3755C>T
  • NM_001407679.1:c.3755C>T
  • NM_001407680.1:c.3755C>T
  • NM_001407681.1:c.3755C>T
  • NM_001407682.1:c.3755C>T
  • NM_001407683.1:c.3755C>T
  • NM_001407684.1:c.3878C>T
  • NM_001407685.1:c.3752C>T
  • NM_001407686.1:c.3752C>T
  • NM_001407687.1:c.3752C>T
  • NM_001407688.1:c.3752C>T
  • NM_001407689.1:c.3752C>T
  • NM_001407690.1:c.3752C>T
  • NM_001407691.1:c.3752C>T
  • NM_001407692.1:c.3737C>T
  • NM_001407694.1:c.3737C>T
  • NM_001407695.1:c.3737C>T
  • NM_001407696.1:c.3737C>T
  • NM_001407697.1:c.3737C>T
  • NM_001407698.1:c.3737C>T
  • NM_001407724.1:c.3737C>T
  • NM_001407725.1:c.3737C>T
  • NM_001407726.1:c.3737C>T
  • NM_001407727.1:c.3737C>T
  • NM_001407728.1:c.3737C>T
  • NM_001407729.1:c.3737C>T
  • NM_001407730.1:c.3737C>T
  • NM_001407731.1:c.3737C>T
  • NM_001407732.1:c.3737C>T
  • NM_001407733.1:c.3737C>T
  • NM_001407734.1:c.3737C>T
  • NM_001407735.1:c.3737C>T
  • NM_001407736.1:c.3737C>T
  • NM_001407737.1:c.3737C>T
  • NM_001407738.1:c.3737C>T
  • NM_001407739.1:c.3737C>T
  • NM_001407740.1:c.3734C>T
  • NM_001407741.1:c.3734C>T
  • NM_001407742.1:c.3734C>T
  • NM_001407743.1:c.3734C>T
  • NM_001407744.1:c.3734C>T
  • NM_001407745.1:c.3734C>T
  • NM_001407746.1:c.3734C>T
  • NM_001407747.1:c.3734C>T
  • NM_001407748.1:c.3734C>T
  • NM_001407749.1:c.3734C>T
  • NM_001407750.1:c.3737C>T
  • NM_001407751.1:c.3737C>T
  • NM_001407752.1:c.3737C>T
  • NM_001407838.1:c.3734C>T
  • NM_001407839.1:c.3734C>T
  • NM_001407841.1:c.3734C>T
  • NM_001407842.1:c.3734C>T
  • NM_001407843.1:c.3734C>T
  • NM_001407844.1:c.3734C>T
  • NM_001407845.1:c.3734C>T
  • NM_001407846.1:c.3734C>T
  • NM_001407847.1:c.3734C>T
  • NM_001407848.1:c.3734C>T
  • NM_001407849.1:c.3734C>T
  • NM_001407850.1:c.3737C>T
  • NM_001407851.1:c.3737C>T
  • NM_001407852.1:c.3737C>T
  • NM_001407853.1:c.3665C>T
  • NM_001407854.1:c.3878C>T
  • NM_001407858.1:c.3878C>T
  • NM_001407859.1:c.3878C>T
  • NM_001407860.1:c.3875C>T
  • NM_001407861.1:c.3875C>T
  • NM_001407862.1:c.3677C>T
  • NM_001407863.1:c.3755C>T
  • NM_001407874.1:c.3674C>T
  • NM_001407875.1:c.3674C>T
  • NM_001407879.1:c.3668C>T
  • NM_001407881.1:c.3668C>T
  • NM_001407882.1:c.3668C>T
  • NM_001407884.1:c.3668C>T
  • NM_001407885.1:c.3668C>T
  • NM_001407886.1:c.3668C>T
  • NM_001407887.1:c.3668C>T
  • NM_001407889.1:c.3668C>T
  • NM_001407894.1:c.3665C>T
  • NM_001407895.1:c.3665C>T
  • NM_001407896.1:c.3665C>T
  • NM_001407897.1:c.3665C>T
  • NM_001407898.1:c.3665C>T
  • NM_001407899.1:c.3665C>T
  • NM_001407900.1:c.3668C>T
  • NM_001407902.1:c.3668C>T
  • NM_001407904.1:c.3668C>T
  • NM_001407906.1:c.3668C>T
  • NM_001407907.1:c.3668C>T
  • NM_001407908.1:c.3668C>T
  • NM_001407909.1:c.3668C>T
  • NM_001407910.1:c.3668C>T
  • NM_001407915.1:c.3665C>T
  • NM_001407916.1:c.3665C>T
  • NM_001407917.1:c.3665C>T
  • NM_001407918.1:c.3665C>T
  • NM_001407919.1:c.3755C>T
  • NM_001407920.1:c.3614C>T
  • NM_001407921.1:c.3614C>T
  • NM_001407922.1:c.3614C>T
  • NM_001407923.1:c.3614C>T
  • NM_001407924.1:c.3614C>T
  • NM_001407925.1:c.3614C>T
  • NM_001407926.1:c.3614C>T
  • NM_001407927.1:c.3614C>T
  • NM_001407928.1:c.3614C>T
  • NM_001407929.1:c.3614C>T
  • NM_001407930.1:c.3611C>T
  • NM_001407931.1:c.3611C>T
  • NM_001407932.1:c.3611C>T
  • NM_001407933.1:c.3614C>T
  • NM_001407934.1:c.3611C>T
  • NM_001407935.1:c.3614C>T
  • NM_001407936.1:c.3611C>T
  • NM_001407937.1:c.3755C>T
  • NM_001407938.1:c.3755C>T
  • NM_001407939.1:c.3755C>T
  • NM_001407940.1:c.3752C>T
  • NM_001407941.1:c.3752C>T
  • NM_001407942.1:c.3737C>T
  • NM_001407943.1:c.3734C>T
  • NM_001407944.1:c.3737C>T
  • NM_001407945.1:c.3737C>T
  • NM_001407946.1:c.3545C>T
  • NM_001407947.1:c.3545C>T
  • NM_001407948.1:c.3545C>T
  • NM_001407949.1:c.3545C>T
  • NM_001407950.1:c.3545C>T
  • NM_001407951.1:c.3545C>T
  • NM_001407952.1:c.3545C>T
  • NM_001407953.1:c.3545C>T
  • NM_001407954.1:c.3542C>T
  • NM_001407955.1:c.3542C>T
  • NM_001407956.1:c.3542C>T
  • NM_001407957.1:c.3545C>T
  • NM_001407958.1:c.3542C>T
  • NM_001407959.1:c.3497C>T
  • NM_001407960.1:c.3497C>T
  • NM_001407962.1:c.3494C>T
  • NM_001407963.1:c.3497C>T
  • NM_001407964.1:c.3734C>T
  • NM_001407965.1:c.3374C>T
  • NM_001407966.1:c.2990C>T
  • NM_001407967.1:c.2990C>T
  • NM_001407968.1:c.1274C>T
  • NM_001407969.1:c.1274C>T
  • NM_001407970.1:c.788-621C>T
  • NM_001407971.1:c.788-621C>T
  • NM_001407972.1:c.785-621C>T
  • NM_001407973.1:c.788-621C>T
  • NM_001407974.1:c.788-621C>T
  • NM_001407975.1:c.788-621C>T
  • NM_001407976.1:c.788-621C>T
  • NM_001407977.1:c.788-621C>T
  • NM_001407978.1:c.788-621C>T
  • NM_001407979.1:c.788-621C>T
  • NM_001407980.1:c.788-621C>T
  • NM_001407981.1:c.788-621C>T
  • NM_001407982.1:c.788-621C>T
  • NM_001407983.1:c.788-621C>T
  • NM_001407984.1:c.785-621C>T
  • NM_001407985.1:c.785-621C>T
  • NM_001407986.1:c.785-621C>T
  • NM_001407990.1:c.788-621C>T
  • NM_001407991.1:c.785-621C>T
  • NM_001407992.1:c.785-621C>T
  • NM_001407993.1:c.788-621C>T
  • NM_001408392.1:c.785-621C>T
  • NM_001408396.1:c.785-621C>T
  • NM_001408397.1:c.785-621C>T
  • NM_001408398.1:c.785-621C>T
  • NM_001408399.1:c.785-621C>T
  • NM_001408400.1:c.785-621C>T
  • NM_001408401.1:c.785-621C>T
  • NM_001408402.1:c.785-621C>T
  • NM_001408403.1:c.788-621C>T
  • NM_001408404.1:c.788-621C>T
  • NM_001408406.1:c.791-630C>T
  • NM_001408407.1:c.785-621C>T
  • NM_001408408.1:c.779-621C>T
  • NM_001408409.1:c.710-621C>T
  • NM_001408410.1:c.647-621C>T
  • NM_001408411.1:c.710-621C>T
  • NM_001408412.1:c.710-621C>T
  • NM_001408413.1:c.707-621C>T
  • NM_001408414.1:c.710-621C>T
  • NM_001408415.1:c.710-621C>T
  • NM_001408416.1:c.707-621C>T
  • NM_001408418.1:c.671-621C>T
  • NM_001408419.1:c.671-621C>T
  • NM_001408420.1:c.671-621C>T
  • NM_001408421.1:c.668-621C>T
  • NM_001408422.1:c.671-621C>T
  • NM_001408423.1:c.671-621C>T
  • NM_001408424.1:c.668-621C>T
  • NM_001408425.1:c.665-621C>T
  • NM_001408426.1:c.665-621C>T
  • NM_001408427.1:c.665-621C>T
  • NM_001408428.1:c.665-621C>T
  • NM_001408429.1:c.665-621C>T
  • NM_001408430.1:c.665-621C>T
  • NM_001408431.1:c.668-621C>T
  • NM_001408432.1:c.662-621C>T
  • NM_001408433.1:c.662-621C>T
  • NM_001408434.1:c.662-621C>T
  • NM_001408435.1:c.662-621C>T
  • NM_001408436.1:c.665-621C>T
  • NM_001408437.1:c.665-621C>T
  • NM_001408438.1:c.665-621C>T
  • NM_001408439.1:c.665-621C>T
  • NM_001408440.1:c.665-621C>T
  • NM_001408441.1:c.665-621C>T
  • NM_001408442.1:c.665-621C>T
  • NM_001408443.1:c.665-621C>T
  • NM_001408444.1:c.665-621C>T
  • NM_001408445.1:c.662-621C>T
  • NM_001408446.1:c.662-621C>T
  • NM_001408447.1:c.662-621C>T
  • NM_001408448.1:c.662-621C>T
  • NM_001408450.1:c.662-621C>T
  • NM_001408451.1:c.653-621C>T
  • NM_001408452.1:c.647-621C>T
  • NM_001408453.1:c.647-621C>T
  • NM_001408454.1:c.647-621C>T
  • NM_001408455.1:c.647-621C>T
  • NM_001408456.1:c.647-621C>T
  • NM_001408457.1:c.647-621C>T
  • NM_001408458.1:c.647-621C>T
  • NM_001408459.1:c.647-621C>T
  • NM_001408460.1:c.647-621C>T
  • NM_001408461.1:c.647-621C>T
  • NM_001408462.1:c.644-621C>T
  • NM_001408463.1:c.644-621C>T
  • NM_001408464.1:c.644-621C>T
  • NM_001408465.1:c.644-621C>T
  • NM_001408466.1:c.647-621C>T
  • NM_001408467.1:c.647-621C>T
  • NM_001408468.1:c.644-621C>T
  • NM_001408469.1:c.647-621C>T
  • NM_001408470.1:c.644-621C>T
  • NM_001408472.1:c.788-621C>T
  • NM_001408473.1:c.785-621C>T
  • NM_001408474.1:c.587-621C>T
  • NM_001408475.1:c.584-621C>T
  • NM_001408476.1:c.587-621C>T
  • NM_001408478.1:c.578-621C>T
  • NM_001408479.1:c.578-621C>T
  • NM_001408480.1:c.578-621C>T
  • NM_001408481.1:c.578-621C>T
  • NM_001408482.1:c.578-621C>T
  • NM_001408483.1:c.578-621C>T
  • NM_001408484.1:c.578-621C>T
  • NM_001408485.1:c.578-621C>T
  • NM_001408489.1:c.578-621C>T
  • NM_001408490.1:c.575-621C>T
  • NM_001408491.1:c.575-621C>T
  • NM_001408492.1:c.578-621C>T
  • NM_001408493.1:c.575-621C>T
  • NM_001408494.1:c.548-621C>T
  • NM_001408495.1:c.545-621C>T
  • NM_001408496.1:c.524-621C>T
  • NM_001408497.1:c.524-621C>T
  • NM_001408498.1:c.524-621C>T
  • NM_001408499.1:c.524-621C>T
  • NM_001408500.1:c.524-621C>T
  • NM_001408501.1:c.524-621C>T
  • NM_001408502.1:c.455-621C>T
  • NM_001408503.1:c.521-621C>T
  • NM_001408504.1:c.521-621C>T
  • NM_001408505.1:c.521-621C>T
  • NM_001408506.1:c.461-621C>T
  • NM_001408507.1:c.461-621C>T
  • NM_001408508.1:c.452-621C>T
  • NM_001408509.1:c.452-621C>T
  • NM_001408510.1:c.407-621C>T
  • NM_001408511.1:c.404-621C>T
  • NM_001408512.1:c.284-621C>T
  • NM_001408513.1:c.578-621C>T
  • NM_001408514.1:c.578-621C>T
  • NM_007294.4:c.3878C>TMANE SELECT
  • NM_007297.4:c.3737C>T
  • NM_007298.4:c.788-621C>T
  • NM_007299.4:c.788-621C>T
  • NM_007300.4:c.3878C>T
  • NP_001394500.1:p.Ala1222Val
  • NP_001394510.1:p.Ala1293Val
  • NP_001394511.1:p.Ala1293Val
  • NP_001394512.1:p.Ala1293Val
  • NP_001394514.1:p.Ala1293Val
  • NP_001394516.1:p.Ala1292Val
  • NP_001394519.1:p.Ala1292Val
  • NP_001394520.1:p.Ala1292Val
  • NP_001394522.1:p.Ala1293Val
  • NP_001394523.1:p.Ala1293Val
  • NP_001394525.1:p.Ala1293Val
  • NP_001394526.1:p.Ala1293Val
  • NP_001394527.1:p.Ala1293Val
  • NP_001394531.1:p.Ala1293Val
  • NP_001394532.1:p.Ala1293Val
  • NP_001394534.1:p.Ala1293Val
  • NP_001394539.1:p.Ala1292Val
  • NP_001394540.1:p.Ala1292Val
  • NP_001394541.1:p.Ala1292Val
  • NP_001394542.1:p.Ala1292Val
  • NP_001394543.1:p.Ala1292Val
  • NP_001394544.1:p.Ala1292Val
  • NP_001394545.1:p.Ala1293Val
  • NP_001394546.1:p.Ala1293Val
  • NP_001394547.1:p.Ala1293Val
  • NP_001394548.1:p.Ala1293Val
  • NP_001394549.1:p.Ala1293Val
  • NP_001394550.1:p.Ala1293Val
  • NP_001394551.1:p.Ala1293Val
  • NP_001394552.1:p.Ala1293Val
  • NP_001394553.1:p.Ala1293Val
  • NP_001394554.1:p.Ala1293Val
  • NP_001394555.1:p.Ala1293Val
  • NP_001394556.1:p.Ala1292Val
  • NP_001394557.1:p.Ala1292Val
  • NP_001394558.1:p.Ala1292Val
  • NP_001394559.1:p.Ala1292Val
  • NP_001394560.1:p.Ala1292Val
  • NP_001394561.1:p.Ala1292Val
  • NP_001394562.1:p.Ala1292Val
  • NP_001394563.1:p.Ala1292Val
  • NP_001394564.1:p.Ala1292Val
  • NP_001394565.1:p.Ala1292Val
  • NP_001394566.1:p.Ala1292Val
  • NP_001394567.1:p.Ala1292Val
  • NP_001394568.1:p.Ala1293Val
  • NP_001394569.1:p.Ala1293Val
  • NP_001394570.1:p.Ala1293Val
  • NP_001394571.1:p.Ala1293Val
  • NP_001394573.1:p.Ala1292Val
  • NP_001394574.1:p.Ala1292Val
  • NP_001394575.1:p.Ala1290Val
  • NP_001394576.1:p.Ala1290Val
  • NP_001394577.1:p.Ala1252Val
  • NP_001394578.1:p.Ala1251Val
  • NP_001394581.1:p.Ala1293Val
  • NP_001394582.1:p.Ala1267Val
  • NP_001394583.1:p.Ala1267Val
  • NP_001394584.1:p.Ala1267Val
  • NP_001394585.1:p.Ala1267Val
  • NP_001394586.1:p.Ala1267Val
  • NP_001394587.1:p.Ala1267Val
  • NP_001394588.1:p.Ala1266Val
  • NP_001394589.1:p.Ala1266Val
  • NP_001394590.1:p.Ala1266Val
  • NP_001394591.1:p.Ala1266Val
  • NP_001394592.1:p.Ala1267Val
  • NP_001394593.1:p.Ala1252Val
  • NP_001394594.1:p.Ala1252Val
  • NP_001394595.1:p.Ala1252Val
  • NP_001394596.1:p.Ala1252Val
  • NP_001394597.1:p.Ala1252Val
  • NP_001394598.1:p.Ala1252Val
  • NP_001394599.1:p.Ala1251Val
  • NP_001394600.1:p.Ala1251Val
  • NP_001394601.1:p.Ala1251Val
  • NP_001394602.1:p.Ala1251Val
  • NP_001394603.1:p.Ala1252Val
  • NP_001394604.1:p.Ala1252Val
  • NP_001394605.1:p.Ala1252Val
  • NP_001394606.1:p.Ala1252Val
  • NP_001394607.1:p.Ala1252Val
  • NP_001394608.1:p.Ala1252Val
  • NP_001394609.1:p.Ala1252Val
  • NP_001394610.1:p.Ala1252Val
  • NP_001394611.1:p.Ala1252Val
  • NP_001394612.1:p.Ala1252Val
  • NP_001394613.1:p.Ala1293Val
  • NP_001394614.1:p.Ala1251Val
  • NP_001394615.1:p.Ala1251Val
  • NP_001394616.1:p.Ala1251Val
  • NP_001394617.1:p.Ala1251Val
  • NP_001394618.1:p.Ala1251Val
  • NP_001394619.1:p.Ala1251Val
  • NP_001394620.1:p.Ala1251Val
  • NP_001394621.1:p.Ala1246Val
  • NP_001394623.1:p.Ala1246Val
  • NP_001394624.1:p.Ala1246Val
  • NP_001394625.1:p.Ala1246Val
  • NP_001394626.1:p.Ala1246Val
  • NP_001394627.1:p.Ala1246Val
  • NP_001394653.1:p.Ala1246Val
  • NP_001394654.1:p.Ala1246Val
  • NP_001394655.1:p.Ala1246Val
  • NP_001394656.1:p.Ala1246Val
  • NP_001394657.1:p.Ala1246Val
  • NP_001394658.1:p.Ala1246Val
  • NP_001394659.1:p.Ala1246Val
  • NP_001394660.1:p.Ala1246Val
  • NP_001394661.1:p.Ala1246Val
  • NP_001394662.1:p.Ala1246Val
  • NP_001394663.1:p.Ala1246Val
  • NP_001394664.1:p.Ala1246Val
  • NP_001394665.1:p.Ala1246Val
  • NP_001394666.1:p.Ala1246Val
  • NP_001394667.1:p.Ala1246Val
  • NP_001394668.1:p.Ala1246Val
  • NP_001394669.1:p.Ala1245Val
  • NP_001394670.1:p.Ala1245Val
  • NP_001394671.1:p.Ala1245Val
  • NP_001394672.1:p.Ala1245Val
  • NP_001394673.1:p.Ala1245Val
  • NP_001394674.1:p.Ala1245Val
  • NP_001394675.1:p.Ala1245Val
  • NP_001394676.1:p.Ala1245Val
  • NP_001394677.1:p.Ala1245Val
  • NP_001394678.1:p.Ala1245Val
  • NP_001394679.1:p.Ala1246Val
  • NP_001394680.1:p.Ala1246Val
  • NP_001394681.1:p.Ala1246Val
  • NP_001394767.1:p.Ala1245Val
  • NP_001394768.1:p.Ala1245Val
  • NP_001394770.1:p.Ala1245Val
  • NP_001394771.1:p.Ala1245Val
  • NP_001394772.1:p.Ala1245Val
  • NP_001394773.1:p.Ala1245Val
  • NP_001394774.1:p.Ala1245Val
  • NP_001394775.1:p.Ala1245Val
  • NP_001394776.1:p.Ala1245Val
  • NP_001394777.1:p.Ala1245Val
  • NP_001394778.1:p.Ala1245Val
  • NP_001394779.1:p.Ala1246Val
  • NP_001394780.1:p.Ala1246Val
  • NP_001394781.1:p.Ala1246Val
  • NP_001394782.1:p.Ala1222Val
  • NP_001394783.1:p.Ala1293Val
  • NP_001394787.1:p.Ala1293Val
  • NP_001394788.1:p.Ala1293Val
  • NP_001394789.1:p.Ala1292Val
  • NP_001394790.1:p.Ala1292Val
  • NP_001394791.1:p.Ala1226Val
  • NP_001394792.1:p.Ala1252Val
  • NP_001394803.1:p.Ala1225Val
  • NP_001394804.1:p.Ala1225Val
  • NP_001394808.1:p.Ala1223Val
  • NP_001394810.1:p.Ala1223Val
  • NP_001394811.1:p.Ala1223Val
  • NP_001394813.1:p.Ala1223Val
  • NP_001394814.1:p.Ala1223Val
  • NP_001394815.1:p.Ala1223Val
  • NP_001394816.1:p.Ala1223Val
  • NP_001394818.1:p.Ala1223Val
  • NP_001394823.1:p.Ala1222Val
  • NP_001394824.1:p.Ala1222Val
  • NP_001394825.1:p.Ala1222Val
  • NP_001394826.1:p.Ala1222Val
  • NP_001394827.1:p.Ala1222Val
  • NP_001394828.1:p.Ala1222Val
  • NP_001394829.1:p.Ala1223Val
  • NP_001394831.1:p.Ala1223Val
  • NP_001394833.1:p.Ala1223Val
  • NP_001394835.1:p.Ala1223Val
  • NP_001394836.1:p.Ala1223Val
  • NP_001394837.1:p.Ala1223Val
  • NP_001394838.1:p.Ala1223Val
  • NP_001394839.1:p.Ala1223Val
  • NP_001394844.1:p.Ala1222Val
  • NP_001394845.1:p.Ala1222Val
  • NP_001394846.1:p.Ala1222Val
  • NP_001394847.1:p.Ala1222Val
  • NP_001394848.1:p.Ala1252Val
  • NP_001394849.1:p.Ala1205Val
  • NP_001394850.1:p.Ala1205Val
  • NP_001394851.1:p.Ala1205Val
  • NP_001394852.1:p.Ala1205Val
  • NP_001394853.1:p.Ala1205Val
  • NP_001394854.1:p.Ala1205Val
  • NP_001394855.1:p.Ala1205Val
  • NP_001394856.1:p.Ala1205Val
  • NP_001394857.1:p.Ala1205Val
  • NP_001394858.1:p.Ala1205Val
  • NP_001394859.1:p.Ala1204Val
  • NP_001394860.1:p.Ala1204Val
  • NP_001394861.1:p.Ala1204Val
  • NP_001394862.1:p.Ala1205Val
  • NP_001394863.1:p.Ala1204Val
  • NP_001394864.1:p.Ala1205Val
  • NP_001394865.1:p.Ala1204Val
  • NP_001394866.1:p.Ala1252Val
  • NP_001394867.1:p.Ala1252Val
  • NP_001394868.1:p.Ala1252Val
  • NP_001394869.1:p.Ala1251Val
  • NP_001394870.1:p.Ala1251Val
  • NP_001394871.1:p.Ala1246Val
  • NP_001394872.1:p.Ala1245Val
  • NP_001394873.1:p.Ala1246Val
  • NP_001394874.1:p.Ala1246Val
  • NP_001394875.1:p.Ala1182Val
  • NP_001394876.1:p.Ala1182Val
  • NP_001394877.1:p.Ala1182Val
  • NP_001394878.1:p.Ala1182Val
  • NP_001394879.1:p.Ala1182Val
  • NP_001394880.1:p.Ala1182Val
  • NP_001394881.1:p.Ala1182Val
  • NP_001394882.1:p.Ala1182Val
  • NP_001394883.1:p.Ala1181Val
  • NP_001394884.1:p.Ala1181Val
  • NP_001394885.1:p.Ala1181Val
  • NP_001394886.1:p.Ala1182Val
  • NP_001394887.1:p.Ala1181Val
  • NP_001394888.1:p.Ala1166Val
  • NP_001394889.1:p.Ala1166Val
  • NP_001394891.1:p.Ala1165Val
  • NP_001394892.1:p.Ala1166Val
  • NP_001394893.1:p.Ala1245Val
  • NP_001394894.1:p.Ala1125Val
  • NP_001394895.1:p.Ala997Val
  • NP_001394896.1:p.Ala997Val
  • NP_001394897.1:p.Ala425Val
  • NP_001394898.1:p.Ala425Val
  • NP_009225.1:p.Ala1293Val
  • NP_009225.1:p.Ala1293Val
  • NP_009228.2:p.Ala1246Val
  • NP_009231.2:p.Ala1293Val
  • LRG_292t1:c.3878C>T
  • LRG_292:g.126331C>T
  • LRG_292p1:p.Ala1293Val
  • NC_000017.10:g.41243670G>A
  • NM_007294.3:c.3878C>T
  • NR_027676.1:n.4014C>T
  • U14680.1:n.3997C>T
  • p.A1293V
Nucleotide change:
3997C>T
Protein change:
A1125V
Links:
dbSNP: rs80357213
NCBI 1000 Genomes Browser:
rs80357213
Molecular consequence:
  • NM_001407970.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-630C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3869C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3869C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3800C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3800C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3800C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3800C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3800C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3800C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3797C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3797C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3797C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3797C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3800C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3677C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3674C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3674C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3611C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3611C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3611C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3611C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3614C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3611C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3542C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3542C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3542C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3542C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3497C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3497C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3494C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3497C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3374C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1274C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1274C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3878C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000215610Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 7, 2023) 		germlineclinical testing

Citation Link,

SCV003849660University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
31911673
PMCID:
PMC7200594

Details of each submission

From Ambry Genetics, SCV000215610.8

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

Description

The p.A1293V variant (also known as c.3878C>T and 3997C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3878. The alanine at codon 1293 is replaced by valine, an amino acid with similar properties. This alteration was identified in an individual from a hereditary breast and/or ovarian cancer cohort (Zuntini R et al. Front Genet 2018 Sep;9:378). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003849660.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

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

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

Last Updated: Nov 3, 2024