NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) AND not provided

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: May 27, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000657619.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)]

NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)

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.3257T>G (p.Leu1086Ter)

HGVS:

NC_000017.11:g.43092274A>C
NG_005905.2:g.125710T>G
NG_087068.1:g.1256A>C
NM_001407571.1:c.3044T>G
NM_001407581.1:c.3257T>G
NM_001407582.1:c.3257T>G
NM_001407583.1:c.3257T>G
NM_001407585.1:c.3257T>G
NM_001407587.1:c.3254T>G
NM_001407590.1:c.3254T>G
NM_001407591.1:c.3254T>G
NM_001407593.1:c.3257T>G
NM_001407594.1:c.3257T>G
NM_001407596.1:c.3257T>G
NM_001407597.1:c.3257T>G
NM_001407598.1:c.3257T>G
NM_001407602.1:c.3257T>G
NM_001407603.1:c.3257T>G
NM_001407605.1:c.3257T>G
NM_001407610.1:c.3254T>G
NM_001407611.1:c.3254T>G
NM_001407612.1:c.3254T>G
NM_001407613.1:c.3254T>G
NM_001407614.1:c.3254T>G
NM_001407615.1:c.3254T>G
NM_001407616.1:c.3257T>G
NM_001407617.1:c.3257T>G
NM_001407618.1:c.3257T>G
NM_001407619.1:c.3257T>G
NM_001407620.1:c.3257T>G
NM_001407621.1:c.3257T>G
NM_001407622.1:c.3257T>G
NM_001407623.1:c.3257T>G
NM_001407624.1:c.3257T>G
NM_001407625.1:c.3257T>G
NM_001407626.1:c.3257T>G
NM_001407627.1:c.3254T>G
NM_001407628.1:c.3254T>G
NM_001407629.1:c.3254T>G
NM_001407630.1:c.3254T>G
NM_001407631.1:c.3254T>G
NM_001407632.1:c.3254T>G
NM_001407633.1:c.3254T>G
NM_001407634.1:c.3254T>G
NM_001407635.1:c.3254T>G
NM_001407636.1:c.3254T>G
NM_001407637.1:c.3254T>G
NM_001407638.1:c.3254T>G
NM_001407639.1:c.3257T>G
NM_001407640.1:c.3257T>G
NM_001407641.1:c.3257T>G
NM_001407642.1:c.3257T>G
NM_001407644.1:c.3254T>G
NM_001407645.1:c.3254T>G
NM_001407646.1:c.3248T>G
NM_001407647.1:c.3248T>G
NM_001407648.1:c.3134T>G
NM_001407649.1:c.3131T>G
NM_001407652.1:c.3257T>G
NM_001407653.1:c.3179T>G
NM_001407654.1:c.3179T>G
NM_001407655.1:c.3179T>G
NM_001407656.1:c.3179T>G
NM_001407657.1:c.3179T>G
NM_001407658.1:c.3179T>G
NM_001407659.1:c.3176T>G
NM_001407660.1:c.3176T>G
NM_001407661.1:c.3176T>G
NM_001407662.1:c.3176T>G
NM_001407663.1:c.3179T>G
NM_001407664.1:c.3134T>G
NM_001407665.1:c.3134T>G
NM_001407666.1:c.3134T>G
NM_001407667.1:c.3134T>G
NM_001407668.1:c.3134T>G
NM_001407669.1:c.3134T>G
NM_001407670.1:c.3131T>G
NM_001407671.1:c.3131T>G
NM_001407672.1:c.3131T>G
NM_001407673.1:c.3131T>G
NM_001407674.1:c.3134T>G
NM_001407675.1:c.3134T>G
NM_001407676.1:c.3134T>G
NM_001407677.1:c.3134T>G
NM_001407678.1:c.3134T>G
NM_001407679.1:c.3134T>G
NM_001407680.1:c.3134T>G
NM_001407681.1:c.3134T>G
NM_001407682.1:c.3134T>G
NM_001407683.1:c.3134T>G
NM_001407684.1:c.3257T>G
NM_001407685.1:c.3131T>G
NM_001407686.1:c.3131T>G
NM_001407687.1:c.3131T>G
NM_001407688.1:c.3131T>G
NM_001407689.1:c.3131T>G
NM_001407690.1:c.3131T>G
NM_001407691.1:c.3131T>G
NM_001407692.1:c.3116T>G
NM_001407694.1:c.3116T>G
NM_001407695.1:c.3116T>G
NM_001407696.1:c.3116T>G
NM_001407697.1:c.3116T>G
NM_001407698.1:c.3116T>G
NM_001407724.1:c.3116T>G
NM_001407725.1:c.3116T>G
NM_001407726.1:c.3116T>G
NM_001407727.1:c.3116T>G
NM_001407728.1:c.3116T>G
NM_001407729.1:c.3116T>G
NM_001407730.1:c.3116T>G
NM_001407731.1:c.3116T>G
NM_001407732.1:c.3116T>G
NM_001407733.1:c.3116T>G
NM_001407734.1:c.3116T>G
NM_001407735.1:c.3116T>G
NM_001407736.1:c.3116T>G
NM_001407737.1:c.3116T>G
NM_001407738.1:c.3116T>G
NM_001407739.1:c.3116T>G
NM_001407740.1:c.3113T>G
NM_001407741.1:c.3113T>G
NM_001407742.1:c.3113T>G
NM_001407743.1:c.3113T>G
NM_001407744.1:c.3113T>G
NM_001407745.1:c.3113T>G
NM_001407746.1:c.3113T>G
NM_001407747.1:c.3113T>G
NM_001407748.1:c.3113T>G
NM_001407749.1:c.3113T>G
NM_001407750.1:c.3116T>G
NM_001407751.1:c.3116T>G
NM_001407752.1:c.3116T>G
NM_001407838.1:c.3113T>G
NM_001407839.1:c.3113T>G
NM_001407841.1:c.3113T>G
NM_001407842.1:c.3113T>G
NM_001407843.1:c.3113T>G
NM_001407844.1:c.3113T>G
NM_001407845.1:c.3113T>G
NM_001407846.1:c.3113T>G
NM_001407847.1:c.3113T>G
NM_001407848.1:c.3113T>G
NM_001407849.1:c.3113T>G
NM_001407850.1:c.3116T>G
NM_001407851.1:c.3116T>G
NM_001407852.1:c.3116T>G
NM_001407853.1:c.3044T>G
NM_001407854.1:c.3257T>G
NM_001407858.1:c.3257T>G
NM_001407859.1:c.3257T>G
NM_001407860.1:c.3254T>G
NM_001407861.1:c.3254T>G
NM_001407862.1:c.3056T>G
NM_001407863.1:c.3134T>G
NM_001407874.1:c.3053T>G
NM_001407875.1:c.3053T>G
NM_001407879.1:c.3047T>G
NM_001407881.1:c.3047T>G
NM_001407882.1:c.3047T>G
NM_001407884.1:c.3047T>G
NM_001407885.1:c.3047T>G
NM_001407886.1:c.3047T>G
NM_001407887.1:c.3047T>G
NM_001407889.1:c.3047T>G
NM_001407894.1:c.3044T>G
NM_001407895.1:c.3044T>G
NM_001407896.1:c.3044T>G
NM_001407897.1:c.3044T>G
NM_001407898.1:c.3044T>G
NM_001407899.1:c.3044T>G
NM_001407900.1:c.3047T>G
NM_001407902.1:c.3047T>G
NM_001407904.1:c.3047T>G
NM_001407906.1:c.3047T>G
NM_001407907.1:c.3047T>G
NM_001407908.1:c.3047T>G
NM_001407909.1:c.3047T>G
NM_001407910.1:c.3047T>G
NM_001407915.1:c.3044T>G
NM_001407916.1:c.3044T>G
NM_001407917.1:c.3044T>G
NM_001407918.1:c.3044T>G
NM_001407919.1:c.3134T>G
NM_001407920.1:c.2993T>G
NM_001407921.1:c.2993T>G
NM_001407922.1:c.2993T>G
NM_001407923.1:c.2993T>G
NM_001407924.1:c.2993T>G
NM_001407925.1:c.2993T>G
NM_001407926.1:c.2993T>G
NM_001407927.1:c.2993T>G
NM_001407928.1:c.2993T>G
NM_001407929.1:c.2993T>G
NM_001407930.1:c.2990T>G
NM_001407931.1:c.2990T>G
NM_001407932.1:c.2990T>G
NM_001407933.1:c.2993T>G
NM_001407934.1:c.2990T>G
NM_001407935.1:c.2993T>G
NM_001407936.1:c.2990T>G
NM_001407937.1:c.3134T>G
NM_001407938.1:c.3134T>G
NM_001407939.1:c.3134T>G
NM_001407940.1:c.3131T>G
NM_001407941.1:c.3131T>G
NM_001407942.1:c.3116T>G
NM_001407943.1:c.3113T>G
NM_001407944.1:c.3116T>G
NM_001407945.1:c.3116T>G
NM_001407946.1:c.2924T>G
NM_001407947.1:c.2924T>G
NM_001407948.1:c.2924T>G
NM_001407949.1:c.2924T>G
NM_001407950.1:c.2924T>G
NM_001407951.1:c.2924T>G
NM_001407952.1:c.2924T>G
NM_001407953.1:c.2924T>G
NM_001407954.1:c.2921T>G
NM_001407955.1:c.2921T>G
NM_001407956.1:c.2921T>G
NM_001407957.1:c.2924T>G
NM_001407958.1:c.2921T>G
NM_001407959.1:c.2876T>G
NM_001407960.1:c.2876T>G
NM_001407962.1:c.2873T>G
NM_001407963.1:c.2876T>G
NM_001407964.1:c.3113T>G
NM_001407965.1:c.2753T>G
NM_001407966.1:c.2369T>G
NM_001407967.1:c.2369T>G
NM_001407968.1:c.788-135T>G
NM_001407969.1:c.788-135T>G
NM_001407970.1:c.788-1242T>G
NM_001407971.1:c.788-1242T>G
NM_001407972.1:c.785-1242T>G
NM_001407973.1:c.788-1242T>G
NM_001407974.1:c.788-1242T>G
NM_001407975.1:c.788-1242T>G
NM_001407976.1:c.788-1242T>G
NM_001407977.1:c.788-1242T>G
NM_001407978.1:c.788-1242T>G
NM_001407979.1:c.788-1242T>G
NM_001407980.1:c.788-1242T>G
NM_001407981.1:c.788-1242T>G
NM_001407982.1:c.788-1242T>G
NM_001407983.1:c.788-1242T>G
NM_001407984.1:c.785-1242T>G
NM_001407985.1:c.785-1242T>G
NM_001407986.1:c.785-1242T>G
NM_001407990.1:c.788-1242T>G
NM_001407991.1:c.785-1242T>G
NM_001407992.1:c.785-1242T>G
NM_001407993.1:c.788-1242T>G
NM_001408392.1:c.785-1242T>G
NM_001408396.1:c.785-1242T>G
NM_001408397.1:c.785-1242T>G
NM_001408398.1:c.785-1242T>G
NM_001408399.1:c.785-1242T>G
NM_001408400.1:c.785-1242T>G
NM_001408401.1:c.785-1242T>G
NM_001408402.1:c.785-1242T>G
NM_001408403.1:c.788-1242T>G
NM_001408404.1:c.788-1242T>G
NM_001408406.1:c.791-1251T>G
NM_001408407.1:c.785-1242T>G
NM_001408408.1:c.779-1242T>G
NM_001408409.1:c.710-1242T>G
NM_001408410.1:c.647-1242T>G
NM_001408411.1:c.710-1242T>G
NM_001408412.1:c.710-1242T>G
NM_001408413.1:c.707-1242T>G
NM_001408414.1:c.710-1242T>G
NM_001408415.1:c.710-1242T>G
NM_001408416.1:c.707-1242T>G
NM_001408418.1:c.671-1242T>G
NM_001408419.1:c.671-1242T>G
NM_001408420.1:c.671-1242T>G
NM_001408421.1:c.668-1242T>G
NM_001408422.1:c.671-1242T>G
NM_001408423.1:c.671-1242T>G
NM_001408424.1:c.668-1242T>G
NM_001408425.1:c.665-1242T>G
NM_001408426.1:c.665-1242T>G
NM_001408427.1:c.665-1242T>G
NM_001408428.1:c.665-1242T>G
NM_001408429.1:c.665-1242T>G
NM_001408430.1:c.665-1242T>G
NM_001408431.1:c.668-1242T>G
NM_001408432.1:c.662-1242T>G
NM_001408433.1:c.662-1242T>G
NM_001408434.1:c.662-1242T>G
NM_001408435.1:c.662-1242T>G
NM_001408436.1:c.665-1242T>G
NM_001408437.1:c.665-1242T>G
NM_001408438.1:c.665-1242T>G
NM_001408439.1:c.665-1242T>G
NM_001408440.1:c.665-1242T>G
NM_001408441.1:c.665-1242T>G
NM_001408442.1:c.665-1242T>G
NM_001408443.1:c.665-1242T>G
NM_001408444.1:c.665-1242T>G
NM_001408445.1:c.662-1242T>G
NM_001408446.1:c.662-1242T>G
NM_001408447.1:c.662-1242T>G
NM_001408448.1:c.662-1242T>G
NM_001408450.1:c.662-1242T>G
NM_001408451.1:c.653-1242T>G
NM_001408452.1:c.647-1242T>G
NM_001408453.1:c.647-1242T>G
NM_001408454.1:c.647-1242T>G
NM_001408455.1:c.647-1242T>G
NM_001408456.1:c.647-1242T>G
NM_001408457.1:c.647-1242T>G
NM_001408458.1:c.647-1242T>G
NM_001408459.1:c.647-1242T>G
NM_001408460.1:c.647-1242T>G
NM_001408461.1:c.647-1242T>G
NM_001408462.1:c.644-1242T>G
NM_001408463.1:c.644-1242T>G
NM_001408464.1:c.644-1242T>G
NM_001408465.1:c.644-1242T>G
NM_001408466.1:c.647-1242T>G
NM_001408467.1:c.647-1242T>G
NM_001408468.1:c.644-1242T>G
NM_001408469.1:c.647-1242T>G
NM_001408470.1:c.644-1242T>G
NM_001408472.1:c.788-1242T>G
NM_001408473.1:c.785-1242T>G
NM_001408474.1:c.587-1242T>G
NM_001408475.1:c.584-1242T>G
NM_001408476.1:c.587-1242T>G
NM_001408478.1:c.578-1242T>G
NM_001408479.1:c.578-1242T>G
NM_001408480.1:c.578-1242T>G
NM_001408481.1:c.578-1242T>G
NM_001408482.1:c.578-1242T>G
NM_001408483.1:c.578-1242T>G
NM_001408484.1:c.578-1242T>G
NM_001408485.1:c.578-1242T>G
NM_001408489.1:c.578-1242T>G
NM_001408490.1:c.575-1242T>G
NM_001408491.1:c.575-1242T>G
NM_001408492.1:c.578-1242T>G
NM_001408493.1:c.575-1242T>G
NM_001408494.1:c.548-1242T>G
NM_001408495.1:c.545-1242T>G
NM_001408496.1:c.524-1242T>G
NM_001408497.1:c.524-1242T>G
NM_001408498.1:c.524-1242T>G
NM_001408499.1:c.524-1242T>G
NM_001408500.1:c.524-1242T>G
NM_001408501.1:c.524-1242T>G
NM_001408502.1:c.455-1242T>G
NM_001408503.1:c.521-1242T>G
NM_001408504.1:c.521-1242T>G
NM_001408505.1:c.521-1242T>G
NM_001408506.1:c.461-1242T>G
NM_001408507.1:c.461-1242T>G
NM_001408508.1:c.452-1242T>G
NM_001408509.1:c.452-1242T>G
NM_001408510.1:c.407-1242T>G
NM_001408511.1:c.404-1242T>G
NM_001408512.1:c.284-1242T>G
NM_001408513.1:c.578-1242T>G
NM_001408514.1:c.578-1242T>G
NM_007294.4:c.3257T>GMANE SELECT
NM_007297.4:c.3116T>G
NM_007298.4:c.788-1242T>G
NM_007299.4:c.788-1242T>G
NM_007300.4:c.3257T>G
NP_001394500.1:p.Leu1015Ter
NP_001394510.1:p.Leu1086Ter
NP_001394511.1:p.Leu1086Ter
NP_001394512.1:p.Leu1086Ter
NP_001394514.1:p.Leu1086Ter
NP_001394516.1:p.Leu1085Ter
NP_001394519.1:p.Leu1085Ter
NP_001394520.1:p.Leu1085Ter
NP_001394522.1:p.Leu1086Ter
NP_001394523.1:p.Leu1086Ter
NP_001394525.1:p.Leu1086Ter
NP_001394526.1:p.Leu1086Ter
NP_001394527.1:p.Leu1086Ter
NP_001394531.1:p.Leu1086Ter
NP_001394532.1:p.Leu1086Ter
NP_001394534.1:p.Leu1086Ter
NP_001394539.1:p.Leu1085Ter
NP_001394540.1:p.Leu1085Ter
NP_001394541.1:p.Leu1085Ter
NP_001394542.1:p.Leu1085Ter
NP_001394543.1:p.Leu1085Ter
NP_001394544.1:p.Leu1085Ter
NP_001394545.1:p.Leu1086Ter
NP_001394546.1:p.Leu1086Ter
NP_001394547.1:p.Leu1086Ter
NP_001394548.1:p.Leu1086Ter
NP_001394549.1:p.Leu1086Ter
NP_001394550.1:p.Leu1086Ter
NP_001394551.1:p.Leu1086Ter
NP_001394552.1:p.Leu1086Ter
NP_001394553.1:p.Leu1086Ter
NP_001394554.1:p.Leu1086Ter
NP_001394555.1:p.Leu1086Ter
NP_001394556.1:p.Leu1085Ter
NP_001394557.1:p.Leu1085Ter
NP_001394558.1:p.Leu1085Ter
NP_001394559.1:p.Leu1085Ter
NP_001394560.1:p.Leu1085Ter
NP_001394561.1:p.Leu1085Ter
NP_001394562.1:p.Leu1085Ter
NP_001394563.1:p.Leu1085Ter
NP_001394564.1:p.Leu1085Ter
NP_001394565.1:p.Leu1085Ter
NP_001394566.1:p.Leu1085Ter
NP_001394567.1:p.Leu1085Ter
NP_001394568.1:p.Leu1086Ter
NP_001394569.1:p.Leu1086Ter
NP_001394570.1:p.Leu1086Ter
NP_001394571.1:p.Leu1086Ter
NP_001394573.1:p.Leu1085Ter
NP_001394574.1:p.Leu1085Ter
NP_001394575.1:p.Leu1083Ter
NP_001394576.1:p.Leu1083Ter
NP_001394577.1:p.Leu1045Ter
NP_001394578.1:p.Leu1044Ter
NP_001394581.1:p.Leu1086Ter
NP_001394582.1:p.Leu1060Ter
NP_001394583.1:p.Leu1060Ter
NP_001394584.1:p.Leu1060Ter
NP_001394585.1:p.Leu1060Ter
NP_001394586.1:p.Leu1060Ter
NP_001394587.1:p.Leu1060Ter
NP_001394588.1:p.Leu1059Ter
NP_001394589.1:p.Leu1059Ter
NP_001394590.1:p.Leu1059Ter
NP_001394591.1:p.Leu1059Ter
NP_001394592.1:p.Leu1060Ter
NP_001394593.1:p.Leu1045Ter
NP_001394594.1:p.Leu1045Ter
NP_001394595.1:p.Leu1045Ter
NP_001394596.1:p.Leu1045Ter
NP_001394597.1:p.Leu1045Ter
NP_001394598.1:p.Leu1045Ter
NP_001394599.1:p.Leu1044Ter
NP_001394600.1:p.Leu1044Ter
NP_001394601.1:p.Leu1044Ter
NP_001394602.1:p.Leu1044Ter
NP_001394603.1:p.Leu1045Ter
NP_001394604.1:p.Leu1045Ter
NP_001394605.1:p.Leu1045Ter
NP_001394606.1:p.Leu1045Ter
NP_001394607.1:p.Leu1045Ter
NP_001394608.1:p.Leu1045Ter
NP_001394609.1:p.Leu1045Ter
NP_001394610.1:p.Leu1045Ter
NP_001394611.1:p.Leu1045Ter
NP_001394612.1:p.Leu1045Ter
NP_001394613.1:p.Leu1086Ter
NP_001394614.1:p.Leu1044Ter
NP_001394615.1:p.Leu1044Ter
NP_001394616.1:p.Leu1044Ter
NP_001394617.1:p.Leu1044Ter
NP_001394618.1:p.Leu1044Ter
NP_001394619.1:p.Leu1044Ter
NP_001394620.1:p.Leu1044Ter
NP_001394621.1:p.Leu1039Ter
NP_001394623.1:p.Leu1039Ter
NP_001394624.1:p.Leu1039Ter
NP_001394625.1:p.Leu1039Ter
NP_001394626.1:p.Leu1039Ter
NP_001394627.1:p.Leu1039Ter
NP_001394653.1:p.Leu1039Ter
NP_001394654.1:p.Leu1039Ter
NP_001394655.1:p.Leu1039Ter
NP_001394656.1:p.Leu1039Ter
NP_001394657.1:p.Leu1039Ter
NP_001394658.1:p.Leu1039Ter
NP_001394659.1:p.Leu1039Ter
NP_001394660.1:p.Leu1039Ter
NP_001394661.1:p.Leu1039Ter
NP_001394662.1:p.Leu1039Ter
NP_001394663.1:p.Leu1039Ter
NP_001394664.1:p.Leu1039Ter
NP_001394665.1:p.Leu1039Ter
NP_001394666.1:p.Leu1039Ter
NP_001394667.1:p.Leu1039Ter
NP_001394668.1:p.Leu1039Ter
NP_001394669.1:p.Leu1038Ter
NP_001394670.1:p.Leu1038Ter
NP_001394671.1:p.Leu1038Ter
NP_001394672.1:p.Leu1038Ter
NP_001394673.1:p.Leu1038Ter
NP_001394674.1:p.Leu1038Ter
NP_001394675.1:p.Leu1038Ter
NP_001394676.1:p.Leu1038Ter
NP_001394677.1:p.Leu1038Ter
NP_001394678.1:p.Leu1038Ter
NP_001394679.1:p.Leu1039Ter
NP_001394680.1:p.Leu1039Ter
NP_001394681.1:p.Leu1039Ter
NP_001394767.1:p.Leu1038Ter
NP_001394768.1:p.Leu1038Ter
NP_001394770.1:p.Leu1038Ter
NP_001394771.1:p.Leu1038Ter
NP_001394772.1:p.Leu1038Ter
NP_001394773.1:p.Leu1038Ter
NP_001394774.1:p.Leu1038Ter
NP_001394775.1:p.Leu1038Ter
NP_001394776.1:p.Leu1038Ter
NP_001394777.1:p.Leu1038Ter
NP_001394778.1:p.Leu1038Ter
NP_001394779.1:p.Leu1039Ter
NP_001394780.1:p.Leu1039Ter
NP_001394781.1:p.Leu1039Ter
NP_001394782.1:p.Leu1015Ter
NP_001394783.1:p.Leu1086Ter
NP_001394787.1:p.Leu1086Ter
NP_001394788.1:p.Leu1086Ter
NP_001394789.1:p.Leu1085Ter
NP_001394790.1:p.Leu1085Ter
NP_001394791.1:p.Leu1019Ter
NP_001394792.1:p.Leu1045Ter
NP_001394803.1:p.Leu1018Ter
NP_001394804.1:p.Leu1018Ter
NP_001394808.1:p.Leu1016Ter
NP_001394810.1:p.Leu1016Ter
NP_001394811.1:p.Leu1016Ter
NP_001394813.1:p.Leu1016Ter
NP_001394814.1:p.Leu1016Ter
NP_001394815.1:p.Leu1016Ter
NP_001394816.1:p.Leu1016Ter
NP_001394818.1:p.Leu1016Ter
NP_001394823.1:p.Leu1015Ter
NP_001394824.1:p.Leu1015Ter
NP_001394825.1:p.Leu1015Ter
NP_001394826.1:p.Leu1015Ter
NP_001394827.1:p.Leu1015Ter
NP_001394828.1:p.Leu1015Ter
NP_001394829.1:p.Leu1016Ter
NP_001394831.1:p.Leu1016Ter
NP_001394833.1:p.Leu1016Ter
NP_001394835.1:p.Leu1016Ter
NP_001394836.1:p.Leu1016Ter
NP_001394837.1:p.Leu1016Ter
NP_001394838.1:p.Leu1016Ter
NP_001394839.1:p.Leu1016Ter
NP_001394844.1:p.Leu1015Ter
NP_001394845.1:p.Leu1015Ter
NP_001394846.1:p.Leu1015Ter
NP_001394847.1:p.Leu1015Ter
NP_001394848.1:p.Leu1045Ter
NP_001394849.1:p.Leu998Ter
NP_001394850.1:p.Leu998Ter
NP_001394851.1:p.Leu998Ter
NP_001394852.1:p.Leu998Ter
NP_001394853.1:p.Leu998Ter
NP_001394854.1:p.Leu998Ter
NP_001394855.1:p.Leu998Ter
NP_001394856.1:p.Leu998Ter
NP_001394857.1:p.Leu998Ter
NP_001394858.1:p.Leu998Ter
NP_001394859.1:p.Leu997Ter
NP_001394860.1:p.Leu997Ter
NP_001394861.1:p.Leu997Ter
NP_001394862.1:p.Leu998Ter
NP_001394863.1:p.Leu997Ter
NP_001394864.1:p.Leu998Ter
NP_001394865.1:p.Leu997Ter
NP_001394866.1:p.Leu1045Ter
NP_001394867.1:p.Leu1045Ter
NP_001394868.1:p.Leu1045Ter
NP_001394869.1:p.Leu1044Ter
NP_001394870.1:p.Leu1044Ter
NP_001394871.1:p.Leu1039Ter
NP_001394872.1:p.Leu1038Ter
NP_001394873.1:p.Leu1039Ter
NP_001394874.1:p.Leu1039Ter
NP_001394875.1:p.Leu975Ter
NP_001394876.1:p.Leu975Ter
NP_001394877.1:p.Leu975Ter
NP_001394878.1:p.Leu975Ter
NP_001394879.1:p.Leu975Ter
NP_001394880.1:p.Leu975Ter
NP_001394881.1:p.Leu975Ter
NP_001394882.1:p.Leu975Ter
NP_001394883.1:p.Leu974Ter
NP_001394884.1:p.Leu974Ter
NP_001394885.1:p.Leu974Ter
NP_001394886.1:p.Leu975Ter
NP_001394887.1:p.Leu974Ter
NP_001394888.1:p.Leu959Ter
NP_001394889.1:p.Leu959Ter
NP_001394891.1:p.Leu958Ter
NP_001394892.1:p.Leu959Ter
NP_001394893.1:p.Leu1038Ter
NP_001394894.1:p.Leu918Ter
NP_001394895.1:p.Leu790Ter
NP_001394896.1:p.Leu790Ter
NP_009225.1:p.Leu1086Ter
NP_009225.1:p.Leu1086Ter
NP_009228.2:p.Leu1039Ter
NP_009231.2:p.Leu1086Ter
LRG_292t1:c.3257T>G
LRG_292:g.125710T>G
LRG_292p1:p.Leu1086Ter
NC_000017.10:g.41244291A>C
NM_007294.3:c.3257T>G
NR_027676.1:n.3393T>G
U14680.1:n.3376T>G
p.L1086*
p.Leu1086*

Nucleotide change:

3376T>G

Protein change:

L1015*

Links:

dbSNP: rs80357006

NCBI 1000 Genomes Browser:

rs80357006

Molecular consequence:

NM_001407968.1:c.788-135T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-135T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1251T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1242T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3248T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3248T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3179T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3179T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3179T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3179T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3179T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3179T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3176T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3176T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3176T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3176T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3179T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3254T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3056T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3053T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3053T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3047T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3044T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2990T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2990T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2990T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2990T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2993T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2990T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3134T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3131T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2924T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2924T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2924T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2924T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2924T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2924T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2924T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2924T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2921T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2921T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2921T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2924T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2921T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2876T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2876T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2873T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2876T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3113T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2753T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2369T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2369T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3116T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3257T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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LOC100446313 [Pongo abelii]
LOC100446313 [Pongo abelii]
Gene ID:100446313

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000779362	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jul 29, 2019)	germline	clinical testing	Citation Link,
SCV001741879	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001952287	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV003809879	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 20, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005199731	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 27, 2022)	germline	clinical testing	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	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000779362.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Reported previously, as c.3376 T>G using alternate nomenclature, in multiple families with breast and/or ovarian cancer (Wagner et al., 1998; Llort et al., 2002; Beristain et al., 2010; de Juan Jimenez et al., 2013; Silva et al., 2014; Minucci et al., 2015); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Reported as pathogenic in a well-curated database but additional evidence is not available (Spurdle et al., 2012); This variant is associated with the following publications: (PMID: 26026974, 25525159, 26306726, 16287141, 23479189, 22460208, 21147080, 24884479, 22984553, 11857748, 24916970, 9663595, 28127413, 23469205, 16267036, 29907814, 29446198, 30736435, 31214711)

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001741879.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001952287.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From Revvity Omics, Revvity, SCV003809879.2

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

#	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

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005199731.1

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

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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine