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NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
May 15, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000112227.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)]

NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)

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.4031A>G (p.Asp1344Gly)
HGVS:
  • NC_000017.11:g.43091500T>C
  • NG_005905.2:g.126484A>G
  • NG_087068.1:g.482T>C
  • NM_001407571.1:c.3818A>G
  • NM_001407581.1:c.4031A>G
  • NM_001407582.1:c.4031A>G
  • NM_001407583.1:c.4031A>G
  • NM_001407585.1:c.4031A>G
  • NM_001407587.1:c.4028A>G
  • NM_001407590.1:c.4028A>G
  • NM_001407591.1:c.4028A>G
  • NM_001407593.1:c.4031A>G
  • NM_001407594.1:c.4031A>G
  • NM_001407596.1:c.4031A>G
  • NM_001407597.1:c.4031A>G
  • NM_001407598.1:c.4031A>G
  • NM_001407602.1:c.4031A>G
  • NM_001407603.1:c.4031A>G
  • NM_001407605.1:c.4031A>G
  • NM_001407610.1:c.4028A>G
  • NM_001407611.1:c.4028A>G
  • NM_001407612.1:c.4028A>G
  • NM_001407613.1:c.4028A>G
  • NM_001407614.1:c.4028A>G
  • NM_001407615.1:c.4028A>G
  • NM_001407616.1:c.4031A>G
  • NM_001407617.1:c.4031A>G
  • NM_001407618.1:c.4031A>G
  • NM_001407619.1:c.4031A>G
  • NM_001407620.1:c.4031A>G
  • NM_001407621.1:c.4031A>G
  • NM_001407622.1:c.4031A>G
  • NM_001407623.1:c.4031A>G
  • NM_001407624.1:c.4031A>G
  • NM_001407625.1:c.4031A>G
  • NM_001407626.1:c.4031A>G
  • NM_001407627.1:c.4028A>G
  • NM_001407628.1:c.4028A>G
  • NM_001407629.1:c.4028A>G
  • NM_001407630.1:c.4028A>G
  • NM_001407631.1:c.4028A>G
  • NM_001407632.1:c.4028A>G
  • NM_001407633.1:c.4028A>G
  • NM_001407634.1:c.4028A>G
  • NM_001407635.1:c.4028A>G
  • NM_001407636.1:c.4028A>G
  • NM_001407637.1:c.4028A>G
  • NM_001407638.1:c.4028A>G
  • NM_001407639.1:c.4031A>G
  • NM_001407640.1:c.4031A>G
  • NM_001407641.1:c.4031A>G
  • NM_001407642.1:c.4031A>G
  • NM_001407644.1:c.4028A>G
  • NM_001407645.1:c.4028A>G
  • NM_001407646.1:c.4022A>G
  • NM_001407647.1:c.4022A>G
  • NM_001407648.1:c.3908A>G
  • NM_001407649.1:c.3905A>G
  • NM_001407652.1:c.4031A>G
  • NM_001407653.1:c.3953A>G
  • NM_001407654.1:c.3953A>G
  • NM_001407655.1:c.3953A>G
  • NM_001407656.1:c.3953A>G
  • NM_001407657.1:c.3953A>G
  • NM_001407658.1:c.3953A>G
  • NM_001407659.1:c.3950A>G
  • NM_001407660.1:c.3950A>G
  • NM_001407661.1:c.3950A>G
  • NM_001407662.1:c.3950A>G
  • NM_001407663.1:c.3953A>G
  • NM_001407664.1:c.3908A>G
  • NM_001407665.1:c.3908A>G
  • NM_001407666.1:c.3908A>G
  • NM_001407667.1:c.3908A>G
  • NM_001407668.1:c.3908A>G
  • NM_001407669.1:c.3908A>G
  • NM_001407670.1:c.3905A>G
  • NM_001407671.1:c.3905A>G
  • NM_001407672.1:c.3905A>G
  • NM_001407673.1:c.3905A>G
  • NM_001407674.1:c.3908A>G
  • NM_001407675.1:c.3908A>G
  • NM_001407676.1:c.3908A>G
  • NM_001407677.1:c.3908A>G
  • NM_001407678.1:c.3908A>G
  • NM_001407679.1:c.3908A>G
  • NM_001407680.1:c.3908A>G
  • NM_001407681.1:c.3908A>G
  • NM_001407682.1:c.3908A>G
  • NM_001407683.1:c.3908A>G
  • NM_001407684.1:c.4031A>G
  • NM_001407685.1:c.3905A>G
  • NM_001407686.1:c.3905A>G
  • NM_001407687.1:c.3905A>G
  • NM_001407688.1:c.3905A>G
  • NM_001407689.1:c.3905A>G
  • NM_001407690.1:c.3905A>G
  • NM_001407691.1:c.3905A>G
  • NM_001407692.1:c.3890A>G
  • NM_001407694.1:c.3890A>G
  • NM_001407695.1:c.3890A>G
  • NM_001407696.1:c.3890A>G
  • NM_001407697.1:c.3890A>G
  • NM_001407698.1:c.3890A>G
  • NM_001407724.1:c.3890A>G
  • NM_001407725.1:c.3890A>G
  • NM_001407726.1:c.3890A>G
  • NM_001407727.1:c.3890A>G
  • NM_001407728.1:c.3890A>G
  • NM_001407729.1:c.3890A>G
  • NM_001407730.1:c.3890A>G
  • NM_001407731.1:c.3890A>G
  • NM_001407732.1:c.3890A>G
  • NM_001407733.1:c.3890A>G
  • NM_001407734.1:c.3890A>G
  • NM_001407735.1:c.3890A>G
  • NM_001407736.1:c.3890A>G
  • NM_001407737.1:c.3890A>G
  • NM_001407738.1:c.3890A>G
  • NM_001407739.1:c.3890A>G
  • NM_001407740.1:c.3887A>G
  • NM_001407741.1:c.3887A>G
  • NM_001407742.1:c.3887A>G
  • NM_001407743.1:c.3887A>G
  • NM_001407744.1:c.3887A>G
  • NM_001407745.1:c.3887A>G
  • NM_001407746.1:c.3887A>G
  • NM_001407747.1:c.3887A>G
  • NM_001407748.1:c.3887A>G
  • NM_001407749.1:c.3887A>G
  • NM_001407750.1:c.3890A>G
  • NM_001407751.1:c.3890A>G
  • NM_001407752.1:c.3890A>G
  • NM_001407838.1:c.3887A>G
  • NM_001407839.1:c.3887A>G
  • NM_001407841.1:c.3887A>G
  • NM_001407842.1:c.3887A>G
  • NM_001407843.1:c.3887A>G
  • NM_001407844.1:c.3887A>G
  • NM_001407845.1:c.3887A>G
  • NM_001407846.1:c.3887A>G
  • NM_001407847.1:c.3887A>G
  • NM_001407848.1:c.3887A>G
  • NM_001407849.1:c.3887A>G
  • NM_001407850.1:c.3890A>G
  • NM_001407851.1:c.3890A>G
  • NM_001407852.1:c.3890A>G
  • NM_001407853.1:c.3818A>G
  • NM_001407854.1:c.4031A>G
  • NM_001407858.1:c.4031A>G
  • NM_001407859.1:c.4031A>G
  • NM_001407860.1:c.4028A>G
  • NM_001407861.1:c.4028A>G
  • NM_001407862.1:c.3830A>G
  • NM_001407863.1:c.3908A>G
  • NM_001407874.1:c.3827A>G
  • NM_001407875.1:c.3827A>G
  • NM_001407879.1:c.3821A>G
  • NM_001407881.1:c.3821A>G
  • NM_001407882.1:c.3821A>G
  • NM_001407884.1:c.3821A>G
  • NM_001407885.1:c.3821A>G
  • NM_001407886.1:c.3821A>G
  • NM_001407887.1:c.3821A>G
  • NM_001407889.1:c.3821A>G
  • NM_001407894.1:c.3818A>G
  • NM_001407895.1:c.3818A>G
  • NM_001407896.1:c.3818A>G
  • NM_001407897.1:c.3818A>G
  • NM_001407898.1:c.3818A>G
  • NM_001407899.1:c.3818A>G
  • NM_001407900.1:c.3821A>G
  • NM_001407902.1:c.3821A>G
  • NM_001407904.1:c.3821A>G
  • NM_001407906.1:c.3821A>G
  • NM_001407907.1:c.3821A>G
  • NM_001407908.1:c.3821A>G
  • NM_001407909.1:c.3821A>G
  • NM_001407910.1:c.3821A>G
  • NM_001407915.1:c.3818A>G
  • NM_001407916.1:c.3818A>G
  • NM_001407917.1:c.3818A>G
  • NM_001407918.1:c.3818A>G
  • NM_001407919.1:c.3908A>G
  • NM_001407920.1:c.3767A>G
  • NM_001407921.1:c.3767A>G
  • NM_001407922.1:c.3767A>G
  • NM_001407923.1:c.3767A>G
  • NM_001407924.1:c.3767A>G
  • NM_001407925.1:c.3767A>G
  • NM_001407926.1:c.3767A>G
  • NM_001407927.1:c.3767A>G
  • NM_001407928.1:c.3767A>G
  • NM_001407929.1:c.3767A>G
  • NM_001407930.1:c.3764A>G
  • NM_001407931.1:c.3764A>G
  • NM_001407932.1:c.3764A>G
  • NM_001407933.1:c.3767A>G
  • NM_001407934.1:c.3764A>G
  • NM_001407935.1:c.3767A>G
  • NM_001407936.1:c.3764A>G
  • NM_001407937.1:c.3908A>G
  • NM_001407938.1:c.3908A>G
  • NM_001407939.1:c.3908A>G
  • NM_001407940.1:c.3905A>G
  • NM_001407941.1:c.3905A>G
  • NM_001407942.1:c.3890A>G
  • NM_001407943.1:c.3887A>G
  • NM_001407944.1:c.3890A>G
  • NM_001407945.1:c.3890A>G
  • NM_001407946.1:c.3698A>G
  • NM_001407947.1:c.3698A>G
  • NM_001407948.1:c.3698A>G
  • NM_001407949.1:c.3698A>G
  • NM_001407950.1:c.3698A>G
  • NM_001407951.1:c.3698A>G
  • NM_001407952.1:c.3698A>G
  • NM_001407953.1:c.3698A>G
  • NM_001407954.1:c.3695A>G
  • NM_001407955.1:c.3695A>G
  • NM_001407956.1:c.3695A>G
  • NM_001407957.1:c.3698A>G
  • NM_001407958.1:c.3695A>G
  • NM_001407959.1:c.3650A>G
  • NM_001407960.1:c.3650A>G
  • NM_001407962.1:c.3647A>G
  • NM_001407963.1:c.3650A>G
  • NM_001407964.1:c.3887A>G
  • NM_001407965.1:c.3527A>G
  • NM_001407966.1:c.3143A>G
  • NM_001407967.1:c.3143A>G
  • NM_001407968.1:c.1427A>G
  • NM_001407969.1:c.1427A>G
  • NM_001407970.1:c.788-468A>G
  • NM_001407971.1:c.788-468A>G
  • NM_001407972.1:c.785-468A>G
  • NM_001407973.1:c.788-468A>G
  • NM_001407974.1:c.788-468A>G
  • NM_001407975.1:c.788-468A>G
  • NM_001407976.1:c.788-468A>G
  • NM_001407977.1:c.788-468A>G
  • NM_001407978.1:c.788-468A>G
  • NM_001407979.1:c.788-468A>G
  • NM_001407980.1:c.788-468A>G
  • NM_001407981.1:c.788-468A>G
  • NM_001407982.1:c.788-468A>G
  • NM_001407983.1:c.788-468A>G
  • NM_001407984.1:c.785-468A>G
  • NM_001407985.1:c.785-468A>G
  • NM_001407986.1:c.785-468A>G
  • NM_001407990.1:c.788-468A>G
  • NM_001407991.1:c.785-468A>G
  • NM_001407992.1:c.785-468A>G
  • NM_001407993.1:c.788-468A>G
  • NM_001408392.1:c.785-468A>G
  • NM_001408396.1:c.785-468A>G
  • NM_001408397.1:c.785-468A>G
  • NM_001408398.1:c.785-468A>G
  • NM_001408399.1:c.785-468A>G
  • NM_001408400.1:c.785-468A>G
  • NM_001408401.1:c.785-468A>G
  • NM_001408402.1:c.785-468A>G
  • NM_001408403.1:c.788-468A>G
  • NM_001408404.1:c.788-468A>G
  • NM_001408406.1:c.791-477A>G
  • NM_001408407.1:c.785-468A>G
  • NM_001408408.1:c.779-468A>G
  • NM_001408409.1:c.710-468A>G
  • NM_001408410.1:c.647-468A>G
  • NM_001408411.1:c.710-468A>G
  • NM_001408412.1:c.710-468A>G
  • NM_001408413.1:c.707-468A>G
  • NM_001408414.1:c.710-468A>G
  • NM_001408415.1:c.710-468A>G
  • NM_001408416.1:c.707-468A>G
  • NM_001408418.1:c.671-468A>G
  • NM_001408419.1:c.671-468A>G
  • NM_001408420.1:c.671-468A>G
  • NM_001408421.1:c.668-468A>G
  • NM_001408422.1:c.671-468A>G
  • NM_001408423.1:c.671-468A>G
  • NM_001408424.1:c.668-468A>G
  • NM_001408425.1:c.665-468A>G
  • NM_001408426.1:c.665-468A>G
  • NM_001408427.1:c.665-468A>G
  • NM_001408428.1:c.665-468A>G
  • NM_001408429.1:c.665-468A>G
  • NM_001408430.1:c.665-468A>G
  • NM_001408431.1:c.668-468A>G
  • NM_001408432.1:c.662-468A>G
  • NM_001408433.1:c.662-468A>G
  • NM_001408434.1:c.662-468A>G
  • NM_001408435.1:c.662-468A>G
  • NM_001408436.1:c.665-468A>G
  • NM_001408437.1:c.665-468A>G
  • NM_001408438.1:c.665-468A>G
  • NM_001408439.1:c.665-468A>G
  • NM_001408440.1:c.665-468A>G
  • NM_001408441.1:c.665-468A>G
  • NM_001408442.1:c.665-468A>G
  • NM_001408443.1:c.665-468A>G
  • NM_001408444.1:c.665-468A>G
  • NM_001408445.1:c.662-468A>G
  • NM_001408446.1:c.662-468A>G
  • NM_001408447.1:c.662-468A>G
  • NM_001408448.1:c.662-468A>G
  • NM_001408450.1:c.662-468A>G
  • NM_001408451.1:c.653-468A>G
  • NM_001408452.1:c.647-468A>G
  • NM_001408453.1:c.647-468A>G
  • NM_001408454.1:c.647-468A>G
  • NM_001408455.1:c.647-468A>G
  • NM_001408456.1:c.647-468A>G
  • NM_001408457.1:c.647-468A>G
  • NM_001408458.1:c.647-468A>G
  • NM_001408459.1:c.647-468A>G
  • NM_001408460.1:c.647-468A>G
  • NM_001408461.1:c.647-468A>G
  • NM_001408462.1:c.644-468A>G
  • NM_001408463.1:c.644-468A>G
  • NM_001408464.1:c.644-468A>G
  • NM_001408465.1:c.644-468A>G
  • NM_001408466.1:c.647-468A>G
  • NM_001408467.1:c.647-468A>G
  • NM_001408468.1:c.644-468A>G
  • NM_001408469.1:c.647-468A>G
  • NM_001408470.1:c.644-468A>G
  • NM_001408472.1:c.788-468A>G
  • NM_001408473.1:c.785-468A>G
  • NM_001408474.1:c.587-468A>G
  • NM_001408475.1:c.584-468A>G
  • NM_001408476.1:c.587-468A>G
  • NM_001408478.1:c.578-468A>G
  • NM_001408479.1:c.578-468A>G
  • NM_001408480.1:c.578-468A>G
  • NM_001408481.1:c.578-468A>G
  • NM_001408482.1:c.578-468A>G
  • NM_001408483.1:c.578-468A>G
  • NM_001408484.1:c.578-468A>G
  • NM_001408485.1:c.578-468A>G
  • NM_001408489.1:c.578-468A>G
  • NM_001408490.1:c.575-468A>G
  • NM_001408491.1:c.575-468A>G
  • NM_001408492.1:c.578-468A>G
  • NM_001408493.1:c.575-468A>G
  • NM_001408494.1:c.548-468A>G
  • NM_001408495.1:c.545-468A>G
  • NM_001408496.1:c.524-468A>G
  • NM_001408497.1:c.524-468A>G
  • NM_001408498.1:c.524-468A>G
  • NM_001408499.1:c.524-468A>G
  • NM_001408500.1:c.524-468A>G
  • NM_001408501.1:c.524-468A>G
  • NM_001408502.1:c.455-468A>G
  • NM_001408503.1:c.521-468A>G
  • NM_001408504.1:c.521-468A>G
  • NM_001408505.1:c.521-468A>G
  • NM_001408506.1:c.461-468A>G
  • NM_001408507.1:c.461-468A>G
  • NM_001408508.1:c.452-468A>G
  • NM_001408509.1:c.452-468A>G
  • NM_001408510.1:c.407-468A>G
  • NM_001408511.1:c.404-468A>G
  • NM_001408512.1:c.284-468A>G
  • NM_001408513.1:c.578-468A>G
  • NM_001408514.1:c.578-468A>G
  • NM_007294.4:c.4031A>GMANE SELECT
  • NM_007297.4:c.3890A>G
  • NM_007298.4:c.788-468A>G
  • NM_007299.4:c.788-468A>G
  • NM_007300.4:c.4031A>G
  • NP_001394500.1:p.Asp1273Gly
  • NP_001394510.1:p.Asp1344Gly
  • NP_001394511.1:p.Asp1344Gly
  • NP_001394512.1:p.Asp1344Gly
  • NP_001394514.1:p.Asp1344Gly
  • NP_001394516.1:p.Asp1343Gly
  • NP_001394519.1:p.Asp1343Gly
  • NP_001394520.1:p.Asp1343Gly
  • NP_001394522.1:p.Asp1344Gly
  • NP_001394523.1:p.Asp1344Gly
  • NP_001394525.1:p.Asp1344Gly
  • NP_001394526.1:p.Asp1344Gly
  • NP_001394527.1:p.Asp1344Gly
  • NP_001394531.1:p.Asp1344Gly
  • NP_001394532.1:p.Asp1344Gly
  • NP_001394534.1:p.Asp1344Gly
  • NP_001394539.1:p.Asp1343Gly
  • NP_001394540.1:p.Asp1343Gly
  • NP_001394541.1:p.Asp1343Gly
  • NP_001394542.1:p.Asp1343Gly
  • NP_001394543.1:p.Asp1343Gly
  • NP_001394544.1:p.Asp1343Gly
  • NP_001394545.1:p.Asp1344Gly
  • NP_001394546.1:p.Asp1344Gly
  • NP_001394547.1:p.Asp1344Gly
  • NP_001394548.1:p.Asp1344Gly
  • NP_001394549.1:p.Asp1344Gly
  • NP_001394550.1:p.Asp1344Gly
  • NP_001394551.1:p.Asp1344Gly
  • NP_001394552.1:p.Asp1344Gly
  • NP_001394553.1:p.Asp1344Gly
  • NP_001394554.1:p.Asp1344Gly
  • NP_001394555.1:p.Asp1344Gly
  • NP_001394556.1:p.Asp1343Gly
  • NP_001394557.1:p.Asp1343Gly
  • NP_001394558.1:p.Asp1343Gly
  • NP_001394559.1:p.Asp1343Gly
  • NP_001394560.1:p.Asp1343Gly
  • NP_001394561.1:p.Asp1343Gly
  • NP_001394562.1:p.Asp1343Gly
  • NP_001394563.1:p.Asp1343Gly
  • NP_001394564.1:p.Asp1343Gly
  • NP_001394565.1:p.Asp1343Gly
  • NP_001394566.1:p.Asp1343Gly
  • NP_001394567.1:p.Asp1343Gly
  • NP_001394568.1:p.Asp1344Gly
  • NP_001394569.1:p.Asp1344Gly
  • NP_001394570.1:p.Asp1344Gly
  • NP_001394571.1:p.Asp1344Gly
  • NP_001394573.1:p.Asp1343Gly
  • NP_001394574.1:p.Asp1343Gly
  • NP_001394575.1:p.Asp1341Gly
  • NP_001394576.1:p.Asp1341Gly
  • NP_001394577.1:p.Asp1303Gly
  • NP_001394578.1:p.Asp1302Gly
  • NP_001394581.1:p.Asp1344Gly
  • NP_001394582.1:p.Asp1318Gly
  • NP_001394583.1:p.Asp1318Gly
  • NP_001394584.1:p.Asp1318Gly
  • NP_001394585.1:p.Asp1318Gly
  • NP_001394586.1:p.Asp1318Gly
  • NP_001394587.1:p.Asp1318Gly
  • NP_001394588.1:p.Asp1317Gly
  • NP_001394589.1:p.Asp1317Gly
  • NP_001394590.1:p.Asp1317Gly
  • NP_001394591.1:p.Asp1317Gly
  • NP_001394592.1:p.Asp1318Gly
  • NP_001394593.1:p.Asp1303Gly
  • NP_001394594.1:p.Asp1303Gly
  • NP_001394595.1:p.Asp1303Gly
  • NP_001394596.1:p.Asp1303Gly
  • NP_001394597.1:p.Asp1303Gly
  • NP_001394598.1:p.Asp1303Gly
  • NP_001394599.1:p.Asp1302Gly
  • NP_001394600.1:p.Asp1302Gly
  • NP_001394601.1:p.Asp1302Gly
  • NP_001394602.1:p.Asp1302Gly
  • NP_001394603.1:p.Asp1303Gly
  • NP_001394604.1:p.Asp1303Gly
  • NP_001394605.1:p.Asp1303Gly
  • NP_001394606.1:p.Asp1303Gly
  • NP_001394607.1:p.Asp1303Gly
  • NP_001394608.1:p.Asp1303Gly
  • NP_001394609.1:p.Asp1303Gly
  • NP_001394610.1:p.Asp1303Gly
  • NP_001394611.1:p.Asp1303Gly
  • NP_001394612.1:p.Asp1303Gly
  • NP_001394613.1:p.Asp1344Gly
  • NP_001394614.1:p.Asp1302Gly
  • NP_001394615.1:p.Asp1302Gly
  • NP_001394616.1:p.Asp1302Gly
  • NP_001394617.1:p.Asp1302Gly
  • NP_001394618.1:p.Asp1302Gly
  • NP_001394619.1:p.Asp1302Gly
  • NP_001394620.1:p.Asp1302Gly
  • NP_001394621.1:p.Asp1297Gly
  • NP_001394623.1:p.Asp1297Gly
  • NP_001394624.1:p.Asp1297Gly
  • NP_001394625.1:p.Asp1297Gly
  • NP_001394626.1:p.Asp1297Gly
  • NP_001394627.1:p.Asp1297Gly
  • NP_001394653.1:p.Asp1297Gly
  • NP_001394654.1:p.Asp1297Gly
  • NP_001394655.1:p.Asp1297Gly
  • NP_001394656.1:p.Asp1297Gly
  • NP_001394657.1:p.Asp1297Gly
  • NP_001394658.1:p.Asp1297Gly
  • NP_001394659.1:p.Asp1297Gly
  • NP_001394660.1:p.Asp1297Gly
  • NP_001394661.1:p.Asp1297Gly
  • NP_001394662.1:p.Asp1297Gly
  • NP_001394663.1:p.Asp1297Gly
  • NP_001394664.1:p.Asp1297Gly
  • NP_001394665.1:p.Asp1297Gly
  • NP_001394666.1:p.Asp1297Gly
  • NP_001394667.1:p.Asp1297Gly
  • NP_001394668.1:p.Asp1297Gly
  • NP_001394669.1:p.Asp1296Gly
  • NP_001394670.1:p.Asp1296Gly
  • NP_001394671.1:p.Asp1296Gly
  • NP_001394672.1:p.Asp1296Gly
  • NP_001394673.1:p.Asp1296Gly
  • NP_001394674.1:p.Asp1296Gly
  • NP_001394675.1:p.Asp1296Gly
  • NP_001394676.1:p.Asp1296Gly
  • NP_001394677.1:p.Asp1296Gly
  • NP_001394678.1:p.Asp1296Gly
  • NP_001394679.1:p.Asp1297Gly
  • NP_001394680.1:p.Asp1297Gly
  • NP_001394681.1:p.Asp1297Gly
  • NP_001394767.1:p.Asp1296Gly
  • NP_001394768.1:p.Asp1296Gly
  • NP_001394770.1:p.Asp1296Gly
  • NP_001394771.1:p.Asp1296Gly
  • NP_001394772.1:p.Asp1296Gly
  • NP_001394773.1:p.Asp1296Gly
  • NP_001394774.1:p.Asp1296Gly
  • NP_001394775.1:p.Asp1296Gly
  • NP_001394776.1:p.Asp1296Gly
  • NP_001394777.1:p.Asp1296Gly
  • NP_001394778.1:p.Asp1296Gly
  • NP_001394779.1:p.Asp1297Gly
  • NP_001394780.1:p.Asp1297Gly
  • NP_001394781.1:p.Asp1297Gly
  • NP_001394782.1:p.Asp1273Gly
  • NP_001394783.1:p.Asp1344Gly
  • NP_001394787.1:p.Asp1344Gly
  • NP_001394788.1:p.Asp1344Gly
  • NP_001394789.1:p.Asp1343Gly
  • NP_001394790.1:p.Asp1343Gly
  • NP_001394791.1:p.Asp1277Gly
  • NP_001394792.1:p.Asp1303Gly
  • NP_001394803.1:p.Asp1276Gly
  • NP_001394804.1:p.Asp1276Gly
  • NP_001394808.1:p.Asp1274Gly
  • NP_001394810.1:p.Asp1274Gly
  • NP_001394811.1:p.Asp1274Gly
  • NP_001394813.1:p.Asp1274Gly
  • NP_001394814.1:p.Asp1274Gly
  • NP_001394815.1:p.Asp1274Gly
  • NP_001394816.1:p.Asp1274Gly
  • NP_001394818.1:p.Asp1274Gly
  • NP_001394823.1:p.Asp1273Gly
  • NP_001394824.1:p.Asp1273Gly
  • NP_001394825.1:p.Asp1273Gly
  • NP_001394826.1:p.Asp1273Gly
  • NP_001394827.1:p.Asp1273Gly
  • NP_001394828.1:p.Asp1273Gly
  • NP_001394829.1:p.Asp1274Gly
  • NP_001394831.1:p.Asp1274Gly
  • NP_001394833.1:p.Asp1274Gly
  • NP_001394835.1:p.Asp1274Gly
  • NP_001394836.1:p.Asp1274Gly
  • NP_001394837.1:p.Asp1274Gly
  • NP_001394838.1:p.Asp1274Gly
  • NP_001394839.1:p.Asp1274Gly
  • NP_001394844.1:p.Asp1273Gly
  • NP_001394845.1:p.Asp1273Gly
  • NP_001394846.1:p.Asp1273Gly
  • NP_001394847.1:p.Asp1273Gly
  • NP_001394848.1:p.Asp1303Gly
  • NP_001394849.1:p.Asp1256Gly
  • NP_001394850.1:p.Asp1256Gly
  • NP_001394851.1:p.Asp1256Gly
  • NP_001394852.1:p.Asp1256Gly
  • NP_001394853.1:p.Asp1256Gly
  • NP_001394854.1:p.Asp1256Gly
  • NP_001394855.1:p.Asp1256Gly
  • NP_001394856.1:p.Asp1256Gly
  • NP_001394857.1:p.Asp1256Gly
  • NP_001394858.1:p.Asp1256Gly
  • NP_001394859.1:p.Asp1255Gly
  • NP_001394860.1:p.Asp1255Gly
  • NP_001394861.1:p.Asp1255Gly
  • NP_001394862.1:p.Asp1256Gly
  • NP_001394863.1:p.Asp1255Gly
  • NP_001394864.1:p.Asp1256Gly
  • NP_001394865.1:p.Asp1255Gly
  • NP_001394866.1:p.Asp1303Gly
  • NP_001394867.1:p.Asp1303Gly
  • NP_001394868.1:p.Asp1303Gly
  • NP_001394869.1:p.Asp1302Gly
  • NP_001394870.1:p.Asp1302Gly
  • NP_001394871.1:p.Asp1297Gly
  • NP_001394872.1:p.Asp1296Gly
  • NP_001394873.1:p.Asp1297Gly
  • NP_001394874.1:p.Asp1297Gly
  • NP_001394875.1:p.Asp1233Gly
  • NP_001394876.1:p.Asp1233Gly
  • NP_001394877.1:p.Asp1233Gly
  • NP_001394878.1:p.Asp1233Gly
  • NP_001394879.1:p.Asp1233Gly
  • NP_001394880.1:p.Asp1233Gly
  • NP_001394881.1:p.Asp1233Gly
  • NP_001394882.1:p.Asp1233Gly
  • NP_001394883.1:p.Asp1232Gly
  • NP_001394884.1:p.Asp1232Gly
  • NP_001394885.1:p.Asp1232Gly
  • NP_001394886.1:p.Asp1233Gly
  • NP_001394887.1:p.Asp1232Gly
  • NP_001394888.1:p.Asp1217Gly
  • NP_001394889.1:p.Asp1217Gly
  • NP_001394891.1:p.Asp1216Gly
  • NP_001394892.1:p.Asp1217Gly
  • NP_001394893.1:p.Asp1296Gly
  • NP_001394894.1:p.Asp1176Gly
  • NP_001394895.1:p.Asp1048Gly
  • NP_001394896.1:p.Asp1048Gly
  • NP_001394897.1:p.Asp476Gly
  • NP_001394898.1:p.Asp476Gly
  • NP_009225.1:p.Asp1344Gly
  • NP_009225.1:p.Asp1344Gly
  • NP_009228.2:p.Asp1297Gly
  • NP_009231.2:p.Asp1344Gly
  • LRG_292t1:c.4031A>G
  • LRG_292:g.126484A>G
  • LRG_292p1:p.Asp1344Gly
  • NC_000017.10:g.41243517T>C
  • NM_007294.3:c.4031A>G
  • NR_027676.1:n.4167A>G
  • U14680.1:n.4150A>G
  • p.D1344G
Protein change:
D1048G
Links:
dbSNP: rs55639854
NCBI 1000 Genomes Browser:
rs55639854
Molecular consequence:
  • NM_001407970.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-477A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-468A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4022A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4022A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3953A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3953A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3953A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3953A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3953A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3953A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3950A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3950A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3950A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3950A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3953A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4028A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3830A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3827A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3827A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3764A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3764A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3764A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3764A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3764A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3695A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3695A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3695A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3695A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3650A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3650A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3647A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3650A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3527A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3143A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3143A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4031A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; 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
SCV000144937Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV000785945Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Jan 18, 2018) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV004817722All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(May 15, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot provided108544not providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Pal T, Bonner D, Cragun D, Monteiro AN, Phelan C, Servais L, Kim J, Narod SA, Akbari MR, Vadaparampil ST.

Cancer. 2015 Dec 1;121(23):4173-80. doi: 10.1002/cncr.29645. Epub 2015 Aug 19.

PubMed [citation]
PMID:
26287763
PMCID:
PMC4666784

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

Mucaki EJ, Ainsworth P, Rogan PK.

Hum Mutat. 2011 Jul;32(7):735-42. doi: 10.1002/humu.21513. Epub 2011 May 5.

PubMed [citation]
PMID:
21523855
See all PubMed Citations (7)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144937.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000785945.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004817722.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

This missense variant replaces aspartic acid with glycine at codon 1344 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least three individuals affected with breast or ovarian cancer and one unaffected individual (PMID: 15172753, 22655046, 33471991; Leiden Open Variation Database DB-ID BRCA1_005338). This variant also has been reported with a family history likelihood ratio for pathogenicity of 0.2217 (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024