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NM_007294.4(BRCA1):c.3053A>G (p.Asn1018Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 2020
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:
RCV001264542.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.3053A>G (p.Asn1018Ser)]

NM_007294.4(BRCA1):c.3053A>G (p.Asn1018Ser)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3053A>G (p.Asn1018Ser)
HGVS:
  • NC_000017.11:g.43092478T>C
  • NG_005905.2:g.125506A>G
  • NM_001407571.1:c.2840A>G
  • NM_001407581.1:c.3053A>G
  • NM_001407582.1:c.3053A>G
  • NM_001407583.1:c.3053A>G
  • NM_001407585.1:c.3053A>G
  • NM_001407587.1:c.3050A>G
  • NM_001407590.1:c.3050A>G
  • NM_001407591.1:c.3050A>G
  • NM_001407593.1:c.3053A>G
  • NM_001407594.1:c.3053A>G
  • NM_001407596.1:c.3053A>G
  • NM_001407597.1:c.3053A>G
  • NM_001407598.1:c.3053A>G
  • NM_001407602.1:c.3053A>G
  • NM_001407603.1:c.3053A>G
  • NM_001407605.1:c.3053A>G
  • NM_001407610.1:c.3050A>G
  • NM_001407611.1:c.3050A>G
  • NM_001407612.1:c.3050A>G
  • NM_001407613.1:c.3050A>G
  • NM_001407614.1:c.3050A>G
  • NM_001407615.1:c.3050A>G
  • NM_001407616.1:c.3053A>G
  • NM_001407617.1:c.3053A>G
  • NM_001407618.1:c.3053A>G
  • NM_001407619.1:c.3053A>G
  • NM_001407620.1:c.3053A>G
  • NM_001407621.1:c.3053A>G
  • NM_001407622.1:c.3053A>G
  • NM_001407623.1:c.3053A>G
  • NM_001407624.1:c.3053A>G
  • NM_001407625.1:c.3053A>G
  • NM_001407626.1:c.3053A>G
  • NM_001407627.1:c.3050A>G
  • NM_001407628.1:c.3050A>G
  • NM_001407629.1:c.3050A>G
  • NM_001407630.1:c.3050A>G
  • NM_001407631.1:c.3050A>G
  • NM_001407632.1:c.3050A>G
  • NM_001407633.1:c.3050A>G
  • NM_001407634.1:c.3050A>G
  • NM_001407635.1:c.3050A>G
  • NM_001407636.1:c.3050A>G
  • NM_001407637.1:c.3050A>G
  • NM_001407638.1:c.3050A>G
  • NM_001407639.1:c.3053A>G
  • NM_001407640.1:c.3053A>G
  • NM_001407641.1:c.3053A>G
  • NM_001407642.1:c.3053A>G
  • NM_001407644.1:c.3050A>G
  • NM_001407645.1:c.3050A>G
  • NM_001407646.1:c.3044A>G
  • NM_001407647.1:c.3044A>G
  • NM_001407648.1:c.2930A>G
  • NM_001407649.1:c.2927A>G
  • NM_001407652.1:c.3053A>G
  • NM_001407653.1:c.2975A>G
  • NM_001407654.1:c.2975A>G
  • NM_001407655.1:c.2975A>G
  • NM_001407656.1:c.2975A>G
  • NM_001407657.1:c.2975A>G
  • NM_001407658.1:c.2975A>G
  • NM_001407659.1:c.2972A>G
  • NM_001407660.1:c.2972A>G
  • NM_001407661.1:c.2972A>G
  • NM_001407662.1:c.2972A>G
  • NM_001407663.1:c.2975A>G
  • NM_001407664.1:c.2930A>G
  • NM_001407665.1:c.2930A>G
  • NM_001407666.1:c.2930A>G
  • NM_001407667.1:c.2930A>G
  • NM_001407668.1:c.2930A>G
  • NM_001407669.1:c.2930A>G
  • NM_001407670.1:c.2927A>G
  • NM_001407671.1:c.2927A>G
  • NM_001407672.1:c.2927A>G
  • NM_001407673.1:c.2927A>G
  • NM_001407674.1:c.2930A>G
  • NM_001407675.1:c.2930A>G
  • NM_001407676.1:c.2930A>G
  • NM_001407677.1:c.2930A>G
  • NM_001407678.1:c.2930A>G
  • NM_001407679.1:c.2930A>G
  • NM_001407680.1:c.2930A>G
  • NM_001407681.1:c.2930A>G
  • NM_001407682.1:c.2930A>G
  • NM_001407683.1:c.2930A>G
  • NM_001407684.1:c.3053A>G
  • NM_001407685.1:c.2927A>G
  • NM_001407686.1:c.2927A>G
  • NM_001407687.1:c.2927A>G
  • NM_001407688.1:c.2927A>G
  • NM_001407689.1:c.2927A>G
  • NM_001407690.1:c.2927A>G
  • NM_001407691.1:c.2927A>G
  • NM_001407692.1:c.2912A>G
  • NM_001407694.1:c.2912A>G
  • NM_001407695.1:c.2912A>G
  • NM_001407696.1:c.2912A>G
  • NM_001407697.1:c.2912A>G
  • NM_001407698.1:c.2912A>G
  • NM_001407724.1:c.2912A>G
  • NM_001407725.1:c.2912A>G
  • NM_001407726.1:c.2912A>G
  • NM_001407727.1:c.2912A>G
  • NM_001407728.1:c.2912A>G
  • NM_001407729.1:c.2912A>G
  • NM_001407730.1:c.2912A>G
  • NM_001407731.1:c.2912A>G
  • NM_001407732.1:c.2912A>G
  • NM_001407733.1:c.2912A>G
  • NM_001407734.1:c.2912A>G
  • NM_001407735.1:c.2912A>G
  • NM_001407736.1:c.2912A>G
  • NM_001407737.1:c.2912A>G
  • NM_001407738.1:c.2912A>G
  • NM_001407739.1:c.2912A>G
  • NM_001407740.1:c.2909A>G
  • NM_001407741.1:c.2909A>G
  • NM_001407742.1:c.2909A>G
  • NM_001407743.1:c.2909A>G
  • NM_001407744.1:c.2909A>G
  • NM_001407745.1:c.2909A>G
  • NM_001407746.1:c.2909A>G
  • NM_001407747.1:c.2909A>G
  • NM_001407748.1:c.2909A>G
  • NM_001407749.1:c.2909A>G
  • NM_001407750.1:c.2912A>G
  • NM_001407751.1:c.2912A>G
  • NM_001407752.1:c.2912A>G
  • NM_001407838.1:c.2909A>G
  • NM_001407839.1:c.2909A>G
  • NM_001407841.1:c.2909A>G
  • NM_001407842.1:c.2909A>G
  • NM_001407843.1:c.2909A>G
  • NM_001407844.1:c.2909A>G
  • NM_001407845.1:c.2909A>G
  • NM_001407846.1:c.2909A>G
  • NM_001407847.1:c.2909A>G
  • NM_001407848.1:c.2909A>G
  • NM_001407849.1:c.2909A>G
  • NM_001407850.1:c.2912A>G
  • NM_001407851.1:c.2912A>G
  • NM_001407852.1:c.2912A>G
  • NM_001407853.1:c.2840A>G
  • NM_001407854.1:c.3053A>G
  • NM_001407858.1:c.3053A>G
  • NM_001407859.1:c.3053A>G
  • NM_001407860.1:c.3050A>G
  • NM_001407861.1:c.3050A>G
  • NM_001407862.1:c.2852A>G
  • NM_001407863.1:c.2930A>G
  • NM_001407874.1:c.2849A>G
  • NM_001407875.1:c.2849A>G
  • NM_001407879.1:c.2843A>G
  • NM_001407881.1:c.2843A>G
  • NM_001407882.1:c.2843A>G
  • NM_001407884.1:c.2843A>G
  • NM_001407885.1:c.2843A>G
  • NM_001407886.1:c.2843A>G
  • NM_001407887.1:c.2843A>G
  • NM_001407889.1:c.2843A>G
  • NM_001407894.1:c.2840A>G
  • NM_001407895.1:c.2840A>G
  • NM_001407896.1:c.2840A>G
  • NM_001407897.1:c.2840A>G
  • NM_001407898.1:c.2840A>G
  • NM_001407899.1:c.2840A>G
  • NM_001407900.1:c.2843A>G
  • NM_001407902.1:c.2843A>G
  • NM_001407904.1:c.2843A>G
  • NM_001407906.1:c.2843A>G
  • NM_001407907.1:c.2843A>G
  • NM_001407908.1:c.2843A>G
  • NM_001407909.1:c.2843A>G
  • NM_001407910.1:c.2843A>G
  • NM_001407915.1:c.2840A>G
  • NM_001407916.1:c.2840A>G
  • NM_001407917.1:c.2840A>G
  • NM_001407918.1:c.2840A>G
  • NM_001407919.1:c.2930A>G
  • NM_001407920.1:c.2789A>G
  • NM_001407921.1:c.2789A>G
  • NM_001407922.1:c.2789A>G
  • NM_001407923.1:c.2789A>G
  • NM_001407924.1:c.2789A>G
  • NM_001407925.1:c.2789A>G
  • NM_001407926.1:c.2789A>G
  • NM_001407927.1:c.2789A>G
  • NM_001407928.1:c.2789A>G
  • NM_001407929.1:c.2789A>G
  • NM_001407930.1:c.2786A>G
  • NM_001407931.1:c.2786A>G
  • NM_001407932.1:c.2786A>G
  • NM_001407933.1:c.2789A>G
  • NM_001407934.1:c.2786A>G
  • NM_001407935.1:c.2789A>G
  • NM_001407936.1:c.2786A>G
  • NM_001407937.1:c.2930A>G
  • NM_001407938.1:c.2930A>G
  • NM_001407939.1:c.2930A>G
  • NM_001407940.1:c.2927A>G
  • NM_001407941.1:c.2927A>G
  • NM_001407942.1:c.2912A>G
  • NM_001407943.1:c.2909A>G
  • NM_001407944.1:c.2912A>G
  • NM_001407945.1:c.2912A>G
  • NM_001407946.1:c.2720A>G
  • NM_001407947.1:c.2720A>G
  • NM_001407948.1:c.2720A>G
  • NM_001407949.1:c.2720A>G
  • NM_001407950.1:c.2720A>G
  • NM_001407951.1:c.2720A>G
  • NM_001407952.1:c.2720A>G
  • NM_001407953.1:c.2720A>G
  • NM_001407954.1:c.2717A>G
  • NM_001407955.1:c.2717A>G
  • NM_001407956.1:c.2717A>G
  • NM_001407957.1:c.2720A>G
  • NM_001407958.1:c.2717A>G
  • NM_001407959.1:c.2672A>G
  • NM_001407960.1:c.2672A>G
  • NM_001407962.1:c.2669A>G
  • NM_001407963.1:c.2672A>G
  • NM_001407964.1:c.2909A>G
  • NM_001407965.1:c.2549A>G
  • NM_001407966.1:c.2165A>G
  • NM_001407967.1:c.2165A>G
  • NM_001407968.1:c.788-339A>G
  • NM_001407969.1:c.788-339A>G
  • NM_001407970.1:c.788-1446A>G
  • NM_001407971.1:c.788-1446A>G
  • NM_001407972.1:c.785-1446A>G
  • NM_001407973.1:c.788-1446A>G
  • NM_001407974.1:c.788-1446A>G
  • NM_001407975.1:c.788-1446A>G
  • NM_001407976.1:c.788-1446A>G
  • NM_001407977.1:c.788-1446A>G
  • NM_001407978.1:c.788-1446A>G
  • NM_001407979.1:c.788-1446A>G
  • NM_001407980.1:c.788-1446A>G
  • NM_001407981.1:c.788-1446A>G
  • NM_001407982.1:c.788-1446A>G
  • NM_001407983.1:c.788-1446A>G
  • NM_001407984.1:c.785-1446A>G
  • NM_001407985.1:c.785-1446A>G
  • NM_001407986.1:c.785-1446A>G
  • NM_001407990.1:c.788-1446A>G
  • NM_001407991.1:c.785-1446A>G
  • NM_001407992.1:c.785-1446A>G
  • NM_001407993.1:c.788-1446A>G
  • NM_001408392.1:c.785-1446A>G
  • NM_001408396.1:c.785-1446A>G
  • NM_001408397.1:c.785-1446A>G
  • NM_001408398.1:c.785-1446A>G
  • NM_001408399.1:c.785-1446A>G
  • NM_001408400.1:c.785-1446A>G
  • NM_001408401.1:c.785-1446A>G
  • NM_001408402.1:c.785-1446A>G
  • NM_001408403.1:c.788-1446A>G
  • NM_001408404.1:c.788-1446A>G
  • NM_001408406.1:c.791-1455A>G
  • NM_001408407.1:c.785-1446A>G
  • NM_001408408.1:c.779-1446A>G
  • NM_001408409.1:c.710-1446A>G
  • NM_001408410.1:c.647-1446A>G
  • NM_001408411.1:c.710-1446A>G
  • NM_001408412.1:c.710-1446A>G
  • NM_001408413.1:c.707-1446A>G
  • NM_001408414.1:c.710-1446A>G
  • NM_001408415.1:c.710-1446A>G
  • NM_001408416.1:c.707-1446A>G
  • NM_001408418.1:c.671-1446A>G
  • NM_001408419.1:c.671-1446A>G
  • NM_001408420.1:c.671-1446A>G
  • NM_001408421.1:c.668-1446A>G
  • NM_001408422.1:c.671-1446A>G
  • NM_001408423.1:c.671-1446A>G
  • NM_001408424.1:c.668-1446A>G
  • NM_001408425.1:c.665-1446A>G
  • NM_001408426.1:c.665-1446A>G
  • NM_001408427.1:c.665-1446A>G
  • NM_001408428.1:c.665-1446A>G
  • NM_001408429.1:c.665-1446A>G
  • NM_001408430.1:c.665-1446A>G
  • NM_001408431.1:c.668-1446A>G
  • NM_001408432.1:c.662-1446A>G
  • NM_001408433.1:c.662-1446A>G
  • NM_001408434.1:c.662-1446A>G
  • NM_001408435.1:c.662-1446A>G
  • NM_001408436.1:c.665-1446A>G
  • NM_001408437.1:c.665-1446A>G
  • NM_001408438.1:c.665-1446A>G
  • NM_001408439.1:c.665-1446A>G
  • NM_001408440.1:c.665-1446A>G
  • NM_001408441.1:c.665-1446A>G
  • NM_001408442.1:c.665-1446A>G
  • NM_001408443.1:c.665-1446A>G
  • NM_001408444.1:c.665-1446A>G
  • NM_001408445.1:c.662-1446A>G
  • NM_001408446.1:c.662-1446A>G
  • NM_001408447.1:c.662-1446A>G
  • NM_001408448.1:c.662-1446A>G
  • NM_001408450.1:c.662-1446A>G
  • NM_001408451.1:c.653-1446A>G
  • NM_001408452.1:c.647-1446A>G
  • NM_001408453.1:c.647-1446A>G
  • NM_001408454.1:c.647-1446A>G
  • NM_001408455.1:c.647-1446A>G
  • NM_001408456.1:c.647-1446A>G
  • NM_001408457.1:c.647-1446A>G
  • NM_001408458.1:c.647-1446A>G
  • NM_001408459.1:c.647-1446A>G
  • NM_001408460.1:c.647-1446A>G
  • NM_001408461.1:c.647-1446A>G
  • NM_001408462.1:c.644-1446A>G
  • NM_001408463.1:c.644-1446A>G
  • NM_001408464.1:c.644-1446A>G
  • NM_001408465.1:c.644-1446A>G
  • NM_001408466.1:c.647-1446A>G
  • NM_001408467.1:c.647-1446A>G
  • NM_001408468.1:c.644-1446A>G
  • NM_001408469.1:c.647-1446A>G
  • NM_001408470.1:c.644-1446A>G
  • NM_001408472.1:c.788-1446A>G
  • NM_001408473.1:c.785-1446A>G
  • NM_001408474.1:c.587-1446A>G
  • NM_001408475.1:c.584-1446A>G
  • NM_001408476.1:c.587-1446A>G
  • NM_001408478.1:c.578-1446A>G
  • NM_001408479.1:c.578-1446A>G
  • NM_001408480.1:c.578-1446A>G
  • NM_001408481.1:c.578-1446A>G
  • NM_001408482.1:c.578-1446A>G
  • NM_001408483.1:c.578-1446A>G
  • NM_001408484.1:c.578-1446A>G
  • NM_001408485.1:c.578-1446A>G
  • NM_001408489.1:c.578-1446A>G
  • NM_001408490.1:c.575-1446A>G
  • NM_001408491.1:c.575-1446A>G
  • NM_001408492.1:c.578-1446A>G
  • NM_001408493.1:c.575-1446A>G
  • NM_001408494.1:c.548-1446A>G
  • NM_001408495.1:c.545-1446A>G
  • NM_001408496.1:c.524-1446A>G
  • NM_001408497.1:c.524-1446A>G
  • NM_001408498.1:c.524-1446A>G
  • NM_001408499.1:c.524-1446A>G
  • NM_001408500.1:c.524-1446A>G
  • NM_001408501.1:c.524-1446A>G
  • NM_001408502.1:c.455-1446A>G
  • NM_001408503.1:c.521-1446A>G
  • NM_001408504.1:c.521-1446A>G
  • NM_001408505.1:c.521-1446A>G
  • NM_001408506.1:c.461-1446A>G
  • NM_001408507.1:c.461-1446A>G
  • NM_001408508.1:c.452-1446A>G
  • NM_001408509.1:c.452-1446A>G
  • NM_001408510.1:c.407-1446A>G
  • NM_001408511.1:c.404-1446A>G
  • NM_001408512.1:c.284-1446A>G
  • NM_001408513.1:c.578-1446A>G
  • NM_001408514.1:c.578-1446A>G
  • NM_007294.4:c.3053A>GMANE SELECT
  • NM_007297.4:c.2912A>G
  • NM_007298.4:c.788-1446A>G
  • NM_007299.4:c.788-1446A>G
  • NM_007300.4:c.3053A>G
  • NP_001394500.1:p.Asn947Ser
  • NP_001394510.1:p.Asn1018Ser
  • NP_001394511.1:p.Asn1018Ser
  • NP_001394512.1:p.Asn1018Ser
  • NP_001394514.1:p.Asn1018Ser
  • NP_001394516.1:p.Asn1017Ser
  • NP_001394519.1:p.Asn1017Ser
  • NP_001394520.1:p.Asn1017Ser
  • NP_001394522.1:p.Asn1018Ser
  • NP_001394523.1:p.Asn1018Ser
  • NP_001394525.1:p.Asn1018Ser
  • NP_001394526.1:p.Asn1018Ser
  • NP_001394527.1:p.Asn1018Ser
  • NP_001394531.1:p.Asn1018Ser
  • NP_001394532.1:p.Asn1018Ser
  • NP_001394534.1:p.Asn1018Ser
  • NP_001394539.1:p.Asn1017Ser
  • NP_001394540.1:p.Asn1017Ser
  • NP_001394541.1:p.Asn1017Ser
  • NP_001394542.1:p.Asn1017Ser
  • NP_001394543.1:p.Asn1017Ser
  • NP_001394544.1:p.Asn1017Ser
  • NP_001394545.1:p.Asn1018Ser
  • NP_001394546.1:p.Asn1018Ser
  • NP_001394547.1:p.Asn1018Ser
  • NP_001394548.1:p.Asn1018Ser
  • NP_001394549.1:p.Asn1018Ser
  • NP_001394550.1:p.Asn1018Ser
  • NP_001394551.1:p.Asn1018Ser
  • NP_001394552.1:p.Asn1018Ser
  • NP_001394553.1:p.Asn1018Ser
  • NP_001394554.1:p.Asn1018Ser
  • NP_001394555.1:p.Asn1018Ser
  • NP_001394556.1:p.Asn1017Ser
  • NP_001394557.1:p.Asn1017Ser
  • NP_001394558.1:p.Asn1017Ser
  • NP_001394559.1:p.Asn1017Ser
  • NP_001394560.1:p.Asn1017Ser
  • NP_001394561.1:p.Asn1017Ser
  • NP_001394562.1:p.Asn1017Ser
  • NP_001394563.1:p.Asn1017Ser
  • NP_001394564.1:p.Asn1017Ser
  • NP_001394565.1:p.Asn1017Ser
  • NP_001394566.1:p.Asn1017Ser
  • NP_001394567.1:p.Asn1017Ser
  • NP_001394568.1:p.Asn1018Ser
  • NP_001394569.1:p.Asn1018Ser
  • NP_001394570.1:p.Asn1018Ser
  • NP_001394571.1:p.Asn1018Ser
  • NP_001394573.1:p.Asn1017Ser
  • NP_001394574.1:p.Asn1017Ser
  • NP_001394575.1:p.Asn1015Ser
  • NP_001394576.1:p.Asn1015Ser
  • NP_001394577.1:p.Asn977Ser
  • NP_001394578.1:p.Asn976Ser
  • NP_001394581.1:p.Asn1018Ser
  • NP_001394582.1:p.Asn992Ser
  • NP_001394583.1:p.Asn992Ser
  • NP_001394584.1:p.Asn992Ser
  • NP_001394585.1:p.Asn992Ser
  • NP_001394586.1:p.Asn992Ser
  • NP_001394587.1:p.Asn992Ser
  • NP_001394588.1:p.Asn991Ser
  • NP_001394589.1:p.Asn991Ser
  • NP_001394590.1:p.Asn991Ser
  • NP_001394591.1:p.Asn991Ser
  • NP_001394592.1:p.Asn992Ser
  • NP_001394593.1:p.Asn977Ser
  • NP_001394594.1:p.Asn977Ser
  • NP_001394595.1:p.Asn977Ser
  • NP_001394596.1:p.Asn977Ser
  • NP_001394597.1:p.Asn977Ser
  • NP_001394598.1:p.Asn977Ser
  • NP_001394599.1:p.Asn976Ser
  • NP_001394600.1:p.Asn976Ser
  • NP_001394601.1:p.Asn976Ser
  • NP_001394602.1:p.Asn976Ser
  • NP_001394603.1:p.Asn977Ser
  • NP_001394604.1:p.Asn977Ser
  • NP_001394605.1:p.Asn977Ser
  • NP_001394606.1:p.Asn977Ser
  • NP_001394607.1:p.Asn977Ser
  • NP_001394608.1:p.Asn977Ser
  • NP_001394609.1:p.Asn977Ser
  • NP_001394610.1:p.Asn977Ser
  • NP_001394611.1:p.Asn977Ser
  • NP_001394612.1:p.Asn977Ser
  • NP_001394613.1:p.Asn1018Ser
  • NP_001394614.1:p.Asn976Ser
  • NP_001394615.1:p.Asn976Ser
  • NP_001394616.1:p.Asn976Ser
  • NP_001394617.1:p.Asn976Ser
  • NP_001394618.1:p.Asn976Ser
  • NP_001394619.1:p.Asn976Ser
  • NP_001394620.1:p.Asn976Ser
  • NP_001394621.1:p.Asn971Ser
  • NP_001394623.1:p.Asn971Ser
  • NP_001394624.1:p.Asn971Ser
  • NP_001394625.1:p.Asn971Ser
  • NP_001394626.1:p.Asn971Ser
  • NP_001394627.1:p.Asn971Ser
  • NP_001394653.1:p.Asn971Ser
  • NP_001394654.1:p.Asn971Ser
  • NP_001394655.1:p.Asn971Ser
  • NP_001394656.1:p.Asn971Ser
  • NP_001394657.1:p.Asn971Ser
  • NP_001394658.1:p.Asn971Ser
  • NP_001394659.1:p.Asn971Ser
  • NP_001394660.1:p.Asn971Ser
  • NP_001394661.1:p.Asn971Ser
  • NP_001394662.1:p.Asn971Ser
  • NP_001394663.1:p.Asn971Ser
  • NP_001394664.1:p.Asn971Ser
  • NP_001394665.1:p.Asn971Ser
  • NP_001394666.1:p.Asn971Ser
  • NP_001394667.1:p.Asn971Ser
  • NP_001394668.1:p.Asn971Ser
  • NP_001394669.1:p.Asn970Ser
  • NP_001394670.1:p.Asn970Ser
  • NP_001394671.1:p.Asn970Ser
  • NP_001394672.1:p.Asn970Ser
  • NP_001394673.1:p.Asn970Ser
  • NP_001394674.1:p.Asn970Ser
  • NP_001394675.1:p.Asn970Ser
  • NP_001394676.1:p.Asn970Ser
  • NP_001394677.1:p.Asn970Ser
  • NP_001394678.1:p.Asn970Ser
  • NP_001394679.1:p.Asn971Ser
  • NP_001394680.1:p.Asn971Ser
  • NP_001394681.1:p.Asn971Ser
  • NP_001394767.1:p.Asn970Ser
  • NP_001394768.1:p.Asn970Ser
  • NP_001394770.1:p.Asn970Ser
  • NP_001394771.1:p.Asn970Ser
  • NP_001394772.1:p.Asn970Ser
  • NP_001394773.1:p.Asn970Ser
  • NP_001394774.1:p.Asn970Ser
  • NP_001394775.1:p.Asn970Ser
  • NP_001394776.1:p.Asn970Ser
  • NP_001394777.1:p.Asn970Ser
  • NP_001394778.1:p.Asn970Ser
  • NP_001394779.1:p.Asn971Ser
  • NP_001394780.1:p.Asn971Ser
  • NP_001394781.1:p.Asn971Ser
  • NP_001394782.1:p.Asn947Ser
  • NP_001394783.1:p.Asn1018Ser
  • NP_001394787.1:p.Asn1018Ser
  • NP_001394788.1:p.Asn1018Ser
  • NP_001394789.1:p.Asn1017Ser
  • NP_001394790.1:p.Asn1017Ser
  • NP_001394791.1:p.Asn951Ser
  • NP_001394792.1:p.Asn977Ser
  • NP_001394803.1:p.Asn950Ser
  • NP_001394804.1:p.Asn950Ser
  • NP_001394808.1:p.Asn948Ser
  • NP_001394810.1:p.Asn948Ser
  • NP_001394811.1:p.Asn948Ser
  • NP_001394813.1:p.Asn948Ser
  • NP_001394814.1:p.Asn948Ser
  • NP_001394815.1:p.Asn948Ser
  • NP_001394816.1:p.Asn948Ser
  • NP_001394818.1:p.Asn948Ser
  • NP_001394823.1:p.Asn947Ser
  • NP_001394824.1:p.Asn947Ser
  • NP_001394825.1:p.Asn947Ser
  • NP_001394826.1:p.Asn947Ser
  • NP_001394827.1:p.Asn947Ser
  • NP_001394828.1:p.Asn947Ser
  • NP_001394829.1:p.Asn948Ser
  • NP_001394831.1:p.Asn948Ser
  • NP_001394833.1:p.Asn948Ser
  • NP_001394835.1:p.Asn948Ser
  • NP_001394836.1:p.Asn948Ser
  • NP_001394837.1:p.Asn948Ser
  • NP_001394838.1:p.Asn948Ser
  • NP_001394839.1:p.Asn948Ser
  • NP_001394844.1:p.Asn947Ser
  • NP_001394845.1:p.Asn947Ser
  • NP_001394846.1:p.Asn947Ser
  • NP_001394847.1:p.Asn947Ser
  • NP_001394848.1:p.Asn977Ser
  • NP_001394849.1:p.Asn930Ser
  • NP_001394850.1:p.Asn930Ser
  • NP_001394851.1:p.Asn930Ser
  • NP_001394852.1:p.Asn930Ser
  • NP_001394853.1:p.Asn930Ser
  • NP_001394854.1:p.Asn930Ser
  • NP_001394855.1:p.Asn930Ser
  • NP_001394856.1:p.Asn930Ser
  • NP_001394857.1:p.Asn930Ser
  • NP_001394858.1:p.Asn930Ser
  • NP_001394859.1:p.Asn929Ser
  • NP_001394860.1:p.Asn929Ser
  • NP_001394861.1:p.Asn929Ser
  • NP_001394862.1:p.Asn930Ser
  • NP_001394863.1:p.Asn929Ser
  • NP_001394864.1:p.Asn930Ser
  • NP_001394865.1:p.Asn929Ser
  • NP_001394866.1:p.Asn977Ser
  • NP_001394867.1:p.Asn977Ser
  • NP_001394868.1:p.Asn977Ser
  • NP_001394869.1:p.Asn976Ser
  • NP_001394870.1:p.Asn976Ser
  • NP_001394871.1:p.Asn971Ser
  • NP_001394872.1:p.Asn970Ser
  • NP_001394873.1:p.Asn971Ser
  • NP_001394874.1:p.Asn971Ser
  • NP_001394875.1:p.Asn907Ser
  • NP_001394876.1:p.Asn907Ser
  • NP_001394877.1:p.Asn907Ser
  • NP_001394878.1:p.Asn907Ser
  • NP_001394879.1:p.Asn907Ser
  • NP_001394880.1:p.Asn907Ser
  • NP_001394881.1:p.Asn907Ser
  • NP_001394882.1:p.Asn907Ser
  • NP_001394883.1:p.Asn906Ser
  • NP_001394884.1:p.Asn906Ser
  • NP_001394885.1:p.Asn906Ser
  • NP_001394886.1:p.Asn907Ser
  • NP_001394887.1:p.Asn906Ser
  • NP_001394888.1:p.Asn891Ser
  • NP_001394889.1:p.Asn891Ser
  • NP_001394891.1:p.Asn890Ser
  • NP_001394892.1:p.Asn891Ser
  • NP_001394893.1:p.Asn970Ser
  • NP_001394894.1:p.Asn850Ser
  • NP_001394895.1:p.Asn722Ser
  • NP_001394896.1:p.Asn722Ser
  • NP_009225.1:p.Asn1018Ser
  • NP_009225.1:p.Asn1018Ser
  • NP_009228.2:p.Asn971Ser
  • NP_009231.2:p.Asn1018Ser
  • LRG_292t1:c.3053A>G
  • LRG_292:g.125506A>G
  • LRG_292p1:p.Asn1018Ser
  • NC_000017.10:g.41244495T>C
  • NM_007294.3:c.3053A>G
  • NR_027676.1:n.3189A>G
Protein change:
N1015S
Links:
dbSNP: rs1567793093
NCBI 1000 Genomes Browser:
rs1567793093
Molecular consequence:
  • NM_001407968.1:c.788-339A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-339A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1455A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1446A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2975A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2975A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2975A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2975A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2975A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2975A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2972A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2972A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2972A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2972A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2975A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3050A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2852A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2849A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2840A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2789A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2717A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2909A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2165A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2165A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2912A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3053A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442748Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 2, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.

Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Mochizuki H, Omata M.

Mol Genet Genomic Med. 2015 Mar;3(2):121-9. doi: 10.1002/mgg3.120. Epub 2014 Dec 4.

PubMed [citation]
PMID:
25802882
PMCID:
PMC4367084

Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.

Nakagomi H, Mochizuki H, Inoue M, Hirotsu Y, Amemiya K, Sakamoto I, Nakagomi S, Kubota T, Omata M.

Cancer Sci. 2018 Feb;109(2):453-461. doi: 10.1111/cas.13464. Epub 2018 Jan 17.

PubMed [citation]
PMID:
29215753
PMCID:
PMC5797818
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001442748.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: BRCA1 c.3053A>G (p.Asn1018Ser) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 273626 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3053A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Hirotsu_2014, Nakagomi_2018, Momozawa_2018). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, citing the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 8, 2024