NM_007294.4(BRCA1):c.4049G>T (p.Gly1350Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 23, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003157708.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.4049G>T (p.Gly1350Val)]

NM_007294.4(BRCA1):c.4049G>T (p.Gly1350Val)

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.4049G>T (p.Gly1350Val)

HGVS:

NC_000017.11:g.43091482C>A
NG_005905.2:g.126502G>T
NG_087068.1:g.464C>A
NM_001407571.1:c.3836G>T
NM_001407581.1:c.4049G>T
NM_001407582.1:c.4049G>T
NM_001407583.1:c.4049G>T
NM_001407585.1:c.4049G>T
NM_001407587.1:c.4046G>T
NM_001407590.1:c.4046G>T
NM_001407591.1:c.4046G>T
NM_001407593.1:c.4049G>T
NM_001407594.1:c.4049G>T
NM_001407596.1:c.4049G>T
NM_001407597.1:c.4049G>T
NM_001407598.1:c.4049G>T
NM_001407602.1:c.4049G>T
NM_001407603.1:c.4049G>T
NM_001407605.1:c.4049G>T
NM_001407610.1:c.4046G>T
NM_001407611.1:c.4046G>T
NM_001407612.1:c.4046G>T
NM_001407613.1:c.4046G>T
NM_001407614.1:c.4046G>T
NM_001407615.1:c.4046G>T
NM_001407616.1:c.4049G>T
NM_001407617.1:c.4049G>T
NM_001407618.1:c.4049G>T
NM_001407619.1:c.4049G>T
NM_001407620.1:c.4049G>T
NM_001407621.1:c.4049G>T
NM_001407622.1:c.4049G>T
NM_001407623.1:c.4049G>T
NM_001407624.1:c.4049G>T
NM_001407625.1:c.4049G>T
NM_001407626.1:c.4049G>T
NM_001407627.1:c.4046G>T
NM_001407628.1:c.4046G>T
NM_001407629.1:c.4046G>T
NM_001407630.1:c.4046G>T
NM_001407631.1:c.4046G>T
NM_001407632.1:c.4046G>T
NM_001407633.1:c.4046G>T
NM_001407634.1:c.4046G>T
NM_001407635.1:c.4046G>T
NM_001407636.1:c.4046G>T
NM_001407637.1:c.4046G>T
NM_001407638.1:c.4046G>T
NM_001407639.1:c.4049G>T
NM_001407640.1:c.4049G>T
NM_001407641.1:c.4049G>T
NM_001407642.1:c.4049G>T
NM_001407644.1:c.4046G>T
NM_001407645.1:c.4046G>T
NM_001407646.1:c.4040G>T
NM_001407647.1:c.4040G>T
NM_001407648.1:c.3926G>T
NM_001407649.1:c.3923G>T
NM_001407652.1:c.4049G>T
NM_001407653.1:c.3971G>T
NM_001407654.1:c.3971G>T
NM_001407655.1:c.3971G>T
NM_001407656.1:c.3971G>T
NM_001407657.1:c.3971G>T
NM_001407658.1:c.3971G>T
NM_001407659.1:c.3968G>T
NM_001407660.1:c.3968G>T
NM_001407661.1:c.3968G>T
NM_001407662.1:c.3968G>T
NM_001407663.1:c.3971G>T
NM_001407664.1:c.3926G>T
NM_001407665.1:c.3926G>T
NM_001407666.1:c.3926G>T
NM_001407667.1:c.3926G>T
NM_001407668.1:c.3926G>T
NM_001407669.1:c.3926G>T
NM_001407670.1:c.3923G>T
NM_001407671.1:c.3923G>T
NM_001407672.1:c.3923G>T
NM_001407673.1:c.3923G>T
NM_001407674.1:c.3926G>T
NM_001407675.1:c.3926G>T
NM_001407676.1:c.3926G>T
NM_001407677.1:c.3926G>T
NM_001407678.1:c.3926G>T
NM_001407679.1:c.3926G>T
NM_001407680.1:c.3926G>T
NM_001407681.1:c.3926G>T
NM_001407682.1:c.3926G>T
NM_001407683.1:c.3926G>T
NM_001407684.1:c.4049G>T
NM_001407685.1:c.3923G>T
NM_001407686.1:c.3923G>T
NM_001407687.1:c.3923G>T
NM_001407688.1:c.3923G>T
NM_001407689.1:c.3923G>T
NM_001407690.1:c.3923G>T
NM_001407691.1:c.3923G>T
NM_001407692.1:c.3908G>T
NM_001407694.1:c.3908G>T
NM_001407695.1:c.3908G>T
NM_001407696.1:c.3908G>T
NM_001407697.1:c.3908G>T
NM_001407698.1:c.3908G>T
NM_001407724.1:c.3908G>T
NM_001407725.1:c.3908G>T
NM_001407726.1:c.3908G>T
NM_001407727.1:c.3908G>T
NM_001407728.1:c.3908G>T
NM_001407729.1:c.3908G>T
NM_001407730.1:c.3908G>T
NM_001407731.1:c.3908G>T
NM_001407732.1:c.3908G>T
NM_001407733.1:c.3908G>T
NM_001407734.1:c.3908G>T
NM_001407735.1:c.3908G>T
NM_001407736.1:c.3908G>T
NM_001407737.1:c.3908G>T
NM_001407738.1:c.3908G>T
NM_001407739.1:c.3908G>T
NM_001407740.1:c.3905G>T
NM_001407741.1:c.3905G>T
NM_001407742.1:c.3905G>T
NM_001407743.1:c.3905G>T
NM_001407744.1:c.3905G>T
NM_001407745.1:c.3905G>T
NM_001407746.1:c.3905G>T
NM_001407747.1:c.3905G>T
NM_001407748.1:c.3905G>T
NM_001407749.1:c.3905G>T
NM_001407750.1:c.3908G>T
NM_001407751.1:c.3908G>T
NM_001407752.1:c.3908G>T
NM_001407838.1:c.3905G>T
NM_001407839.1:c.3905G>T
NM_001407841.1:c.3905G>T
NM_001407842.1:c.3905G>T
NM_001407843.1:c.3905G>T
NM_001407844.1:c.3905G>T
NM_001407845.1:c.3905G>T
NM_001407846.1:c.3905G>T
NM_001407847.1:c.3905G>T
NM_001407848.1:c.3905G>T
NM_001407849.1:c.3905G>T
NM_001407850.1:c.3908G>T
NM_001407851.1:c.3908G>T
NM_001407852.1:c.3908G>T
NM_001407853.1:c.3836G>T
NM_001407854.1:c.4049G>T
NM_001407858.1:c.4049G>T
NM_001407859.1:c.4049G>T
NM_001407860.1:c.4046G>T
NM_001407861.1:c.4046G>T
NM_001407862.1:c.3848G>T
NM_001407863.1:c.3926G>T
NM_001407874.1:c.3845G>T
NM_001407875.1:c.3845G>T
NM_001407879.1:c.3839G>T
NM_001407881.1:c.3839G>T
NM_001407882.1:c.3839G>T
NM_001407884.1:c.3839G>T
NM_001407885.1:c.3839G>T
NM_001407886.1:c.3839G>T
NM_001407887.1:c.3839G>T
NM_001407889.1:c.3839G>T
NM_001407894.1:c.3836G>T
NM_001407895.1:c.3836G>T
NM_001407896.1:c.3836G>T
NM_001407897.1:c.3836G>T
NM_001407898.1:c.3836G>T
NM_001407899.1:c.3836G>T
NM_001407900.1:c.3839G>T
NM_001407902.1:c.3839G>T
NM_001407904.1:c.3839G>T
NM_001407906.1:c.3839G>T
NM_001407907.1:c.3839G>T
NM_001407908.1:c.3839G>T
NM_001407909.1:c.3839G>T
NM_001407910.1:c.3839G>T
NM_001407915.1:c.3836G>T
NM_001407916.1:c.3836G>T
NM_001407917.1:c.3836G>T
NM_001407918.1:c.3836G>T
NM_001407919.1:c.3926G>T
NM_001407920.1:c.3785G>T
NM_001407921.1:c.3785G>T
NM_001407922.1:c.3785G>T
NM_001407923.1:c.3785G>T
NM_001407924.1:c.3785G>T
NM_001407925.1:c.3785G>T
NM_001407926.1:c.3785G>T
NM_001407927.1:c.3785G>T
NM_001407928.1:c.3785G>T
NM_001407929.1:c.3785G>T
NM_001407930.1:c.3782G>T
NM_001407931.1:c.3782G>T
NM_001407932.1:c.3782G>T
NM_001407933.1:c.3785G>T
NM_001407934.1:c.3782G>T
NM_001407935.1:c.3785G>T
NM_001407936.1:c.3782G>T
NM_001407937.1:c.3926G>T
NM_001407938.1:c.3926G>T
NM_001407939.1:c.3926G>T
NM_001407940.1:c.3923G>T
NM_001407941.1:c.3923G>T
NM_001407942.1:c.3908G>T
NM_001407943.1:c.3905G>T
NM_001407944.1:c.3908G>T
NM_001407945.1:c.3908G>T
NM_001407946.1:c.3716G>T
NM_001407947.1:c.3716G>T
NM_001407948.1:c.3716G>T
NM_001407949.1:c.3716G>T
NM_001407950.1:c.3716G>T
NM_001407951.1:c.3716G>T
NM_001407952.1:c.3716G>T
NM_001407953.1:c.3716G>T
NM_001407954.1:c.3713G>T
NM_001407955.1:c.3713G>T
NM_001407956.1:c.3713G>T
NM_001407957.1:c.3716G>T
NM_001407958.1:c.3713G>T
NM_001407959.1:c.3668G>T
NM_001407960.1:c.3668G>T
NM_001407962.1:c.3665G>T
NM_001407963.1:c.3668G>T
NM_001407964.1:c.3905G>T
NM_001407965.1:c.3545G>T
NM_001407966.1:c.3161G>T
NM_001407967.1:c.3161G>T
NM_001407968.1:c.1445G>T
NM_001407969.1:c.1445G>T
NM_001407970.1:c.788-450G>T
NM_001407971.1:c.788-450G>T
NM_001407972.1:c.785-450G>T
NM_001407973.1:c.788-450G>T
NM_001407974.1:c.788-450G>T
NM_001407975.1:c.788-450G>T
NM_001407976.1:c.788-450G>T
NM_001407977.1:c.788-450G>T
NM_001407978.1:c.788-450G>T
NM_001407979.1:c.788-450G>T
NM_001407980.1:c.788-450G>T
NM_001407981.1:c.788-450G>T
NM_001407982.1:c.788-450G>T
NM_001407983.1:c.788-450G>T
NM_001407984.1:c.785-450G>T
NM_001407985.1:c.785-450G>T
NM_001407986.1:c.785-450G>T
NM_001407990.1:c.788-450G>T
NM_001407991.1:c.785-450G>T
NM_001407992.1:c.785-450G>T
NM_001407993.1:c.788-450G>T
NM_001408392.1:c.785-450G>T
NM_001408396.1:c.785-450G>T
NM_001408397.1:c.785-450G>T
NM_001408398.1:c.785-450G>T
NM_001408399.1:c.785-450G>T
NM_001408400.1:c.785-450G>T
NM_001408401.1:c.785-450G>T
NM_001408402.1:c.785-450G>T
NM_001408403.1:c.788-450G>T
NM_001408404.1:c.788-450G>T
NM_001408406.1:c.791-459G>T
NM_001408407.1:c.785-450G>T
NM_001408408.1:c.779-450G>T
NM_001408409.1:c.710-450G>T
NM_001408410.1:c.647-450G>T
NM_001408411.1:c.710-450G>T
NM_001408412.1:c.710-450G>T
NM_001408413.1:c.707-450G>T
NM_001408414.1:c.710-450G>T
NM_001408415.1:c.710-450G>T
NM_001408416.1:c.707-450G>T
NM_001408418.1:c.671-450G>T
NM_001408419.1:c.671-450G>T
NM_001408420.1:c.671-450G>T
NM_001408421.1:c.668-450G>T
NM_001408422.1:c.671-450G>T
NM_001408423.1:c.671-450G>T
NM_001408424.1:c.668-450G>T
NM_001408425.1:c.665-450G>T
NM_001408426.1:c.665-450G>T
NM_001408427.1:c.665-450G>T
NM_001408428.1:c.665-450G>T
NM_001408429.1:c.665-450G>T
NM_001408430.1:c.665-450G>T
NM_001408431.1:c.668-450G>T
NM_001408432.1:c.662-450G>T
NM_001408433.1:c.662-450G>T
NM_001408434.1:c.662-450G>T
NM_001408435.1:c.662-450G>T
NM_001408436.1:c.665-450G>T
NM_001408437.1:c.665-450G>T
NM_001408438.1:c.665-450G>T
NM_001408439.1:c.665-450G>T
NM_001408440.1:c.665-450G>T
NM_001408441.1:c.665-450G>T
NM_001408442.1:c.665-450G>T
NM_001408443.1:c.665-450G>T
NM_001408444.1:c.665-450G>T
NM_001408445.1:c.662-450G>T
NM_001408446.1:c.662-450G>T
NM_001408447.1:c.662-450G>T
NM_001408448.1:c.662-450G>T
NM_001408450.1:c.662-450G>T
NM_001408451.1:c.653-450G>T
NM_001408452.1:c.647-450G>T
NM_001408453.1:c.647-450G>T
NM_001408454.1:c.647-450G>T
NM_001408455.1:c.647-450G>T
NM_001408456.1:c.647-450G>T
NM_001408457.1:c.647-450G>T
NM_001408458.1:c.647-450G>T
NM_001408459.1:c.647-450G>T
NM_001408460.1:c.647-450G>T
NM_001408461.1:c.647-450G>T
NM_001408462.1:c.644-450G>T
NM_001408463.1:c.644-450G>T
NM_001408464.1:c.644-450G>T
NM_001408465.1:c.644-450G>T
NM_001408466.1:c.647-450G>T
NM_001408467.1:c.647-450G>T
NM_001408468.1:c.644-450G>T
NM_001408469.1:c.647-450G>T
NM_001408470.1:c.644-450G>T
NM_001408472.1:c.788-450G>T
NM_001408473.1:c.785-450G>T
NM_001408474.1:c.587-450G>T
NM_001408475.1:c.584-450G>T
NM_001408476.1:c.587-450G>T
NM_001408478.1:c.578-450G>T
NM_001408479.1:c.578-450G>T
NM_001408480.1:c.578-450G>T
NM_001408481.1:c.578-450G>T
NM_001408482.1:c.578-450G>T
NM_001408483.1:c.578-450G>T
NM_001408484.1:c.578-450G>T
NM_001408485.1:c.578-450G>T
NM_001408489.1:c.578-450G>T
NM_001408490.1:c.575-450G>T
NM_001408491.1:c.575-450G>T
NM_001408492.1:c.578-450G>T
NM_001408493.1:c.575-450G>T
NM_001408494.1:c.548-450G>T
NM_001408495.1:c.545-450G>T
NM_001408496.1:c.524-450G>T
NM_001408497.1:c.524-450G>T
NM_001408498.1:c.524-450G>T
NM_001408499.1:c.524-450G>T
NM_001408500.1:c.524-450G>T
NM_001408501.1:c.524-450G>T
NM_001408502.1:c.455-450G>T
NM_001408503.1:c.521-450G>T
NM_001408504.1:c.521-450G>T
NM_001408505.1:c.521-450G>T
NM_001408506.1:c.461-450G>T
NM_001408507.1:c.461-450G>T
NM_001408508.1:c.452-450G>T
NM_001408509.1:c.452-450G>T
NM_001408510.1:c.407-450G>T
NM_001408511.1:c.404-450G>T
NM_001408512.1:c.284-450G>T
NM_001408513.1:c.578-450G>T
NM_001408514.1:c.578-450G>T
NM_007294.4:c.4049G>TMANE SELECT
NM_007297.4:c.3908G>T
NM_007298.4:c.788-450G>T
NM_007299.4:c.788-450G>T
NM_007300.4:c.4049G>T
NP_001394500.1:p.Gly1279Val
NP_001394510.1:p.Gly1350Val
NP_001394511.1:p.Gly1350Val
NP_001394512.1:p.Gly1350Val
NP_001394514.1:p.Gly1350Val
NP_001394516.1:p.Gly1349Val
NP_001394519.1:p.Gly1349Val
NP_001394520.1:p.Gly1349Val
NP_001394522.1:p.Gly1350Val
NP_001394523.1:p.Gly1350Val
NP_001394525.1:p.Gly1350Val
NP_001394526.1:p.Gly1350Val
NP_001394527.1:p.Gly1350Val
NP_001394531.1:p.Gly1350Val
NP_001394532.1:p.Gly1350Val
NP_001394534.1:p.Gly1350Val
NP_001394539.1:p.Gly1349Val
NP_001394540.1:p.Gly1349Val
NP_001394541.1:p.Gly1349Val
NP_001394542.1:p.Gly1349Val
NP_001394543.1:p.Gly1349Val
NP_001394544.1:p.Gly1349Val
NP_001394545.1:p.Gly1350Val
NP_001394546.1:p.Gly1350Val
NP_001394547.1:p.Gly1350Val
NP_001394548.1:p.Gly1350Val
NP_001394549.1:p.Gly1350Val
NP_001394550.1:p.Gly1350Val
NP_001394551.1:p.Gly1350Val
NP_001394552.1:p.Gly1350Val
NP_001394553.1:p.Gly1350Val
NP_001394554.1:p.Gly1350Val
NP_001394555.1:p.Gly1350Val
NP_001394556.1:p.Gly1349Val
NP_001394557.1:p.Gly1349Val
NP_001394558.1:p.Gly1349Val
NP_001394559.1:p.Gly1349Val
NP_001394560.1:p.Gly1349Val
NP_001394561.1:p.Gly1349Val
NP_001394562.1:p.Gly1349Val
NP_001394563.1:p.Gly1349Val
NP_001394564.1:p.Gly1349Val
NP_001394565.1:p.Gly1349Val
NP_001394566.1:p.Gly1349Val
NP_001394567.1:p.Gly1349Val
NP_001394568.1:p.Gly1350Val
NP_001394569.1:p.Gly1350Val
NP_001394570.1:p.Gly1350Val
NP_001394571.1:p.Gly1350Val
NP_001394573.1:p.Gly1349Val
NP_001394574.1:p.Gly1349Val
NP_001394575.1:p.Gly1347Val
NP_001394576.1:p.Gly1347Val
NP_001394577.1:p.Gly1309Val
NP_001394578.1:p.Gly1308Val
NP_001394581.1:p.Gly1350Val
NP_001394582.1:p.Gly1324Val
NP_001394583.1:p.Gly1324Val
NP_001394584.1:p.Gly1324Val
NP_001394585.1:p.Gly1324Val
NP_001394586.1:p.Gly1324Val
NP_001394587.1:p.Gly1324Val
NP_001394588.1:p.Gly1323Val
NP_001394589.1:p.Gly1323Val
NP_001394590.1:p.Gly1323Val
NP_001394591.1:p.Gly1323Val
NP_001394592.1:p.Gly1324Val
NP_001394593.1:p.Gly1309Val
NP_001394594.1:p.Gly1309Val
NP_001394595.1:p.Gly1309Val
NP_001394596.1:p.Gly1309Val
NP_001394597.1:p.Gly1309Val
NP_001394598.1:p.Gly1309Val
NP_001394599.1:p.Gly1308Val
NP_001394600.1:p.Gly1308Val
NP_001394601.1:p.Gly1308Val
NP_001394602.1:p.Gly1308Val
NP_001394603.1:p.Gly1309Val
NP_001394604.1:p.Gly1309Val
NP_001394605.1:p.Gly1309Val
NP_001394606.1:p.Gly1309Val
NP_001394607.1:p.Gly1309Val
NP_001394608.1:p.Gly1309Val
NP_001394609.1:p.Gly1309Val
NP_001394610.1:p.Gly1309Val
NP_001394611.1:p.Gly1309Val
NP_001394612.1:p.Gly1309Val
NP_001394613.1:p.Gly1350Val
NP_001394614.1:p.Gly1308Val
NP_001394615.1:p.Gly1308Val
NP_001394616.1:p.Gly1308Val
NP_001394617.1:p.Gly1308Val
NP_001394618.1:p.Gly1308Val
NP_001394619.1:p.Gly1308Val
NP_001394620.1:p.Gly1308Val
NP_001394621.1:p.Gly1303Val
NP_001394623.1:p.Gly1303Val
NP_001394624.1:p.Gly1303Val
NP_001394625.1:p.Gly1303Val
NP_001394626.1:p.Gly1303Val
NP_001394627.1:p.Gly1303Val
NP_001394653.1:p.Gly1303Val
NP_001394654.1:p.Gly1303Val
NP_001394655.1:p.Gly1303Val
NP_001394656.1:p.Gly1303Val
NP_001394657.1:p.Gly1303Val
NP_001394658.1:p.Gly1303Val
NP_001394659.1:p.Gly1303Val
NP_001394660.1:p.Gly1303Val
NP_001394661.1:p.Gly1303Val
NP_001394662.1:p.Gly1303Val
NP_001394663.1:p.Gly1303Val
NP_001394664.1:p.Gly1303Val
NP_001394665.1:p.Gly1303Val
NP_001394666.1:p.Gly1303Val
NP_001394667.1:p.Gly1303Val
NP_001394668.1:p.Gly1303Val
NP_001394669.1:p.Gly1302Val
NP_001394670.1:p.Gly1302Val
NP_001394671.1:p.Gly1302Val
NP_001394672.1:p.Gly1302Val
NP_001394673.1:p.Gly1302Val
NP_001394674.1:p.Gly1302Val
NP_001394675.1:p.Gly1302Val
NP_001394676.1:p.Gly1302Val
NP_001394677.1:p.Gly1302Val
NP_001394678.1:p.Gly1302Val
NP_001394679.1:p.Gly1303Val
NP_001394680.1:p.Gly1303Val
NP_001394681.1:p.Gly1303Val
NP_001394767.1:p.Gly1302Val
NP_001394768.1:p.Gly1302Val
NP_001394770.1:p.Gly1302Val
NP_001394771.1:p.Gly1302Val
NP_001394772.1:p.Gly1302Val
NP_001394773.1:p.Gly1302Val
NP_001394774.1:p.Gly1302Val
NP_001394775.1:p.Gly1302Val
NP_001394776.1:p.Gly1302Val
NP_001394777.1:p.Gly1302Val
NP_001394778.1:p.Gly1302Val
NP_001394779.1:p.Gly1303Val
NP_001394780.1:p.Gly1303Val
NP_001394781.1:p.Gly1303Val
NP_001394782.1:p.Gly1279Val
NP_001394783.1:p.Gly1350Val
NP_001394787.1:p.Gly1350Val
NP_001394788.1:p.Gly1350Val
NP_001394789.1:p.Gly1349Val
NP_001394790.1:p.Gly1349Val
NP_001394791.1:p.Gly1283Val
NP_001394792.1:p.Gly1309Val
NP_001394803.1:p.Gly1282Val
NP_001394804.1:p.Gly1282Val
NP_001394808.1:p.Gly1280Val
NP_001394810.1:p.Gly1280Val
NP_001394811.1:p.Gly1280Val
NP_001394813.1:p.Gly1280Val
NP_001394814.1:p.Gly1280Val
NP_001394815.1:p.Gly1280Val
NP_001394816.1:p.Gly1280Val
NP_001394818.1:p.Gly1280Val
NP_001394823.1:p.Gly1279Val
NP_001394824.1:p.Gly1279Val
NP_001394825.1:p.Gly1279Val
NP_001394826.1:p.Gly1279Val
NP_001394827.1:p.Gly1279Val
NP_001394828.1:p.Gly1279Val
NP_001394829.1:p.Gly1280Val
NP_001394831.1:p.Gly1280Val
NP_001394833.1:p.Gly1280Val
NP_001394835.1:p.Gly1280Val
NP_001394836.1:p.Gly1280Val
NP_001394837.1:p.Gly1280Val
NP_001394838.1:p.Gly1280Val
NP_001394839.1:p.Gly1280Val
NP_001394844.1:p.Gly1279Val
NP_001394845.1:p.Gly1279Val
NP_001394846.1:p.Gly1279Val
NP_001394847.1:p.Gly1279Val
NP_001394848.1:p.Gly1309Val
NP_001394849.1:p.Gly1262Val
NP_001394850.1:p.Gly1262Val
NP_001394851.1:p.Gly1262Val
NP_001394852.1:p.Gly1262Val
NP_001394853.1:p.Gly1262Val
NP_001394854.1:p.Gly1262Val
NP_001394855.1:p.Gly1262Val
NP_001394856.1:p.Gly1262Val
NP_001394857.1:p.Gly1262Val
NP_001394858.1:p.Gly1262Val
NP_001394859.1:p.Gly1261Val
NP_001394860.1:p.Gly1261Val
NP_001394861.1:p.Gly1261Val
NP_001394862.1:p.Gly1262Val
NP_001394863.1:p.Gly1261Val
NP_001394864.1:p.Gly1262Val
NP_001394865.1:p.Gly1261Val
NP_001394866.1:p.Gly1309Val
NP_001394867.1:p.Gly1309Val
NP_001394868.1:p.Gly1309Val
NP_001394869.1:p.Gly1308Val
NP_001394870.1:p.Gly1308Val
NP_001394871.1:p.Gly1303Val
NP_001394872.1:p.Gly1302Val
NP_001394873.1:p.Gly1303Val
NP_001394874.1:p.Gly1303Val
NP_001394875.1:p.Gly1239Val
NP_001394876.1:p.Gly1239Val
NP_001394877.1:p.Gly1239Val
NP_001394878.1:p.Gly1239Val
NP_001394879.1:p.Gly1239Val
NP_001394880.1:p.Gly1239Val
NP_001394881.1:p.Gly1239Val
NP_001394882.1:p.Gly1239Val
NP_001394883.1:p.Gly1238Val
NP_001394884.1:p.Gly1238Val
NP_001394885.1:p.Gly1238Val
NP_001394886.1:p.Gly1239Val
NP_001394887.1:p.Gly1238Val
NP_001394888.1:p.Gly1223Val
NP_001394889.1:p.Gly1223Val
NP_001394891.1:p.Gly1222Val
NP_001394892.1:p.Gly1223Val
NP_001394893.1:p.Gly1302Val
NP_001394894.1:p.Gly1182Val
NP_001394895.1:p.Gly1054Val
NP_001394896.1:p.Gly1054Val
NP_001394897.1:p.Gly482Val
NP_001394898.1:p.Gly482Val
NP_009225.1:p.Gly1350Val
NP_009225.1:p.Gly1350Val
NP_009228.2:p.Gly1303Val
NP_009231.2:p.Gly1350Val
LRG_292t1:c.4049G>T
LRG_292:g.126502G>T
LRG_292p1:p.Gly1350Val
NC_000017.10:g.41243499C>A
NM_007294.3:c.4049G>T
NR_027676.1:n.4185G>T

Protein change:

G1054V

Links:

dbSNP: rs1433564897

NCBI 1000 Genomes Browser:

rs1433564897

Molecular consequence:

NM_001407970.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-459G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.4040G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.4040G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3968G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3968G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3968G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3968G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.4046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.3848G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.3845G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.3845G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.3839G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.3836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.3782G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.3782G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.3782G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.3782G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.3785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.3782G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.3926G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.3923G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.3716G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.3716G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.3716G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.3716G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.3716G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.3716G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.3716G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.3716G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.3713G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.3713G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.3713G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.3716G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.3713G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.3668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.3668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.3665G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.3668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.3905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.3545G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3161G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3161G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.1445G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.1445G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.3908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.4049G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003846563	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Dines et al. (Genet Med. 2020))	Likely benign (Mar 23, 2023)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003846563

University of Washington Department of Laboratory Medicine, University of Washington

criteria provided, single submitter

(Dines et al. (Genet Med. 2020))

Likely benign
(Mar 23, 2023)

germline

curation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	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 University of Washington Department of Laboratory Medicine, University of Washington, SCV003846563.1

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

Description

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine