NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs) AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Feb 6, 2024
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:: RCV000237066.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)]

NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)

HGVS:

NC_000017.11:g.43092544_43092545dup
NG_005905.2:g.125442_125443dup
NM_001407571.1:c.2776_2777dup
NM_001407581.1:c.2989_2990dup
NM_001407582.1:c.2989_2990dup
NM_001407583.1:c.2989_2990dup
NM_001407585.1:c.2989_2990dup
NM_001407587.1:c.2986_2987dup
NM_001407590.1:c.2986_2987dup
NM_001407591.1:c.2986_2987dup
NM_001407593.1:c.2989_2990dup
NM_001407594.1:c.2989_2990dup
NM_001407596.1:c.2989_2990dup
NM_001407597.1:c.2989_2990dup
NM_001407598.1:c.2989_2990dup
NM_001407602.1:c.2989_2990dup
NM_001407603.1:c.2989_2990dup
NM_001407605.1:c.2989_2990dup
NM_001407610.1:c.2986_2987dup
NM_001407611.1:c.2986_2987dup
NM_001407612.1:c.2986_2987dup
NM_001407613.1:c.2986_2987dup
NM_001407614.1:c.2986_2987dup
NM_001407615.1:c.2986_2987dup
NM_001407616.1:c.2989_2990dup
NM_001407617.1:c.2989_2990dup
NM_001407618.1:c.2989_2990dup
NM_001407619.1:c.2989_2990dup
NM_001407620.1:c.2989_2990dup
NM_001407621.1:c.2989_2990dup
NM_001407622.1:c.2989_2990dup
NM_001407623.1:c.2989_2990dup
NM_001407624.1:c.2989_2990dup
NM_001407625.1:c.2989_2990dup
NM_001407626.1:c.2989_2990dup
NM_001407627.1:c.2986_2987dup
NM_001407628.1:c.2986_2987dup
NM_001407629.1:c.2986_2987dup
NM_001407630.1:c.2986_2987dup
NM_001407631.1:c.2986_2987dup
NM_001407632.1:c.2986_2987dup
NM_001407633.1:c.2986_2987dup
NM_001407634.1:c.2986_2987dup
NM_001407635.1:c.2986_2987dup
NM_001407636.1:c.2986_2987dup
NM_001407637.1:c.2986_2987dup
NM_001407638.1:c.2986_2987dup
NM_001407639.1:c.2989_2990dup
NM_001407640.1:c.2989_2990dup
NM_001407641.1:c.2989_2990dup
NM_001407642.1:c.2989_2990dup
NM_001407644.1:c.2986_2987dup
NM_001407645.1:c.2986_2987dup
NM_001407646.1:c.2980_2981dup
NM_001407647.1:c.2980_2981dup
NM_001407648.1:c.2866_2867dup
NM_001407649.1:c.2863_2864dup
NM_001407652.1:c.2989_2990dup
NM_001407653.1:c.2911_2912dup
NM_001407654.1:c.2911_2912dup
NM_001407655.1:c.2911_2912dup
NM_001407656.1:c.2911_2912dup
NM_001407657.1:c.2911_2912dup
NM_001407658.1:c.2911_2912dup
NM_001407659.1:c.2908_2909dup
NM_001407660.1:c.2908_2909dup
NM_001407661.1:c.2908_2909dup
NM_001407662.1:c.2908_2909dup
NM_001407663.1:c.2911_2912dup
NM_001407664.1:c.2866_2867dup
NM_001407665.1:c.2866_2867dup
NM_001407666.1:c.2866_2867dup
NM_001407667.1:c.2866_2867dup
NM_001407668.1:c.2866_2867dup
NM_001407669.1:c.2866_2867dup
NM_001407670.1:c.2863_2864dup
NM_001407671.1:c.2863_2864dup
NM_001407672.1:c.2863_2864dup
NM_001407673.1:c.2863_2864dup
NM_001407674.1:c.2866_2867dup
NM_001407675.1:c.2866_2867dup
NM_001407676.1:c.2866_2867dup
NM_001407677.1:c.2866_2867dup
NM_001407678.1:c.2866_2867dup
NM_001407679.1:c.2866_2867dup
NM_001407680.1:c.2866_2867dup
NM_001407681.1:c.2866_2867dup
NM_001407682.1:c.2866_2867dup
NM_001407683.1:c.2866_2867dup
NM_001407684.1:c.2989_2990dup
NM_001407685.1:c.2863_2864dup
NM_001407686.1:c.2863_2864dup
NM_001407687.1:c.2863_2864dup
NM_001407688.1:c.2863_2864dup
NM_001407689.1:c.2863_2864dup
NM_001407690.1:c.2863_2864dup
NM_001407691.1:c.2863_2864dup
NM_001407692.1:c.2848_2849dup
NM_001407694.1:c.2848_2849dup
NM_001407695.1:c.2848_2849dup
NM_001407696.1:c.2848_2849dup
NM_001407697.1:c.2848_2849dup
NM_001407698.1:c.2848_2849dup
NM_001407724.1:c.2848_2849dup
NM_001407725.1:c.2848_2849dup
NM_001407726.1:c.2848_2849dup
NM_001407727.1:c.2848_2849dup
NM_001407728.1:c.2848_2849dup
NM_001407729.1:c.2848_2849dup
NM_001407730.1:c.2848_2849dup
NM_001407731.1:c.2848_2849dup
NM_001407732.1:c.2848_2849dup
NM_001407733.1:c.2848_2849dup
NM_001407734.1:c.2848_2849dup
NM_001407735.1:c.2848_2849dup
NM_001407736.1:c.2848_2849dup
NM_001407737.1:c.2848_2849dup
NM_001407738.1:c.2848_2849dup
NM_001407739.1:c.2848_2849dup
NM_001407740.1:c.2845_2846dup
NM_001407741.1:c.2845_2846dup
NM_001407742.1:c.2845_2846dup
NM_001407743.1:c.2845_2846dup
NM_001407744.1:c.2845_2846dup
NM_001407745.1:c.2845_2846dup
NM_001407746.1:c.2845_2846dup
NM_001407747.1:c.2845_2846dup
NM_001407748.1:c.2845_2846dup
NM_001407749.1:c.2845_2846dup
NM_001407750.1:c.2848_2849dup
NM_001407751.1:c.2848_2849dup
NM_001407752.1:c.2848_2849dup
NM_001407838.1:c.2845_2846dup
NM_001407839.1:c.2845_2846dup
NM_001407841.1:c.2845_2846dup
NM_001407842.1:c.2845_2846dup
NM_001407843.1:c.2845_2846dup
NM_001407844.1:c.2845_2846dup
NM_001407845.1:c.2845_2846dup
NM_001407846.1:c.2845_2846dup
NM_001407847.1:c.2845_2846dup
NM_001407848.1:c.2845_2846dup
NM_001407849.1:c.2845_2846dup
NM_001407850.1:c.2848_2849dup
NM_001407851.1:c.2848_2849dup
NM_001407852.1:c.2848_2849dup
NM_001407853.1:c.2776_2777dup
NM_001407854.1:c.2989_2990dup
NM_001407858.1:c.2989_2990dup
NM_001407859.1:c.2989_2990dup
NM_001407860.1:c.2986_2987dup
NM_001407861.1:c.2986_2987dup
NM_001407862.1:c.2788_2789dup
NM_001407863.1:c.2866_2867dup
NM_001407874.1:c.2785_2786dup
NM_001407875.1:c.2785_2786dup
NM_001407879.1:c.2779_2780dup
NM_001407881.1:c.2779_2780dup
NM_001407882.1:c.2779_2780dup
NM_001407884.1:c.2779_2780dup
NM_001407885.1:c.2779_2780dup
NM_001407886.1:c.2779_2780dup
NM_001407887.1:c.2779_2780dup
NM_001407889.1:c.2779_2780dup
NM_001407894.1:c.2776_2777dup
NM_001407895.1:c.2776_2777dup
NM_001407896.1:c.2776_2777dup
NM_001407897.1:c.2776_2777dup
NM_001407898.1:c.2776_2777dup
NM_001407899.1:c.2776_2777dup
NM_001407900.1:c.2779_2780dup
NM_001407902.1:c.2779_2780dup
NM_001407904.1:c.2779_2780dup
NM_001407906.1:c.2779_2780dup
NM_001407907.1:c.2779_2780dup
NM_001407908.1:c.2779_2780dup
NM_001407909.1:c.2779_2780dup
NM_001407910.1:c.2779_2780dup
NM_001407915.1:c.2776_2777dup
NM_001407916.1:c.2776_2777dup
NM_001407917.1:c.2776_2777dup
NM_001407918.1:c.2776_2777dup
NM_001407919.1:c.2866_2867dup
NM_001407920.1:c.2725_2726dup
NM_001407921.1:c.2725_2726dup
NM_001407922.1:c.2725_2726dup
NM_001407923.1:c.2725_2726dup
NM_001407924.1:c.2725_2726dup
NM_001407925.1:c.2725_2726dup
NM_001407926.1:c.2725_2726dup
NM_001407927.1:c.2725_2726dup
NM_001407928.1:c.2725_2726dup
NM_001407929.1:c.2725_2726dup
NM_001407930.1:c.2722_2723dup
NM_001407931.1:c.2722_2723dup
NM_001407932.1:c.2722_2723dup
NM_001407933.1:c.2725_2726dup
NM_001407934.1:c.2722_2723dup
NM_001407935.1:c.2725_2726dup
NM_001407936.1:c.2722_2723dup
NM_001407937.1:c.2866_2867dup
NM_001407938.1:c.2866_2867dup
NM_001407939.1:c.2866_2867dup
NM_001407940.1:c.2863_2864dup
NM_001407941.1:c.2863_2864dup
NM_001407942.1:c.2848_2849dup
NM_001407943.1:c.2845_2846dup
NM_001407944.1:c.2848_2849dup
NM_001407945.1:c.2848_2849dup
NM_001407946.1:c.2656_2657dup
NM_001407947.1:c.2656_2657dup
NM_001407948.1:c.2656_2657dup
NM_001407949.1:c.2656_2657dup
NM_001407950.1:c.2656_2657dup
NM_001407951.1:c.2656_2657dup
NM_001407952.1:c.2656_2657dup
NM_001407953.1:c.2656_2657dup
NM_001407954.1:c.2653_2654dup
NM_001407955.1:c.2653_2654dup
NM_001407956.1:c.2653_2654dup
NM_001407957.1:c.2656_2657dup
NM_001407958.1:c.2653_2654dup
NM_001407959.1:c.2608_2609dup
NM_001407960.1:c.2608_2609dup
NM_001407962.1:c.2605_2606dup
NM_001407963.1:c.2608_2609dup
NM_001407964.1:c.2845_2846dup
NM_001407965.1:c.2485_2486dup
NM_001407966.1:c.2101_2102dup
NM_001407967.1:c.2101_2102dup
NM_001407968.1:c.788-403_788-402dup
NM_001407969.1:c.788-403_788-402dup
NM_001407970.1:c.788-1510_788-1509dup
NM_001407971.1:c.788-1510_788-1509dup
NM_001407972.1:c.785-1510_785-1509dup
NM_001407973.1:c.788-1510_788-1509dup
NM_001407974.1:c.788-1510_788-1509dup
NM_001407975.1:c.788-1510_788-1509dup
NM_001407976.1:c.788-1510_788-1509dup
NM_001407977.1:c.788-1510_788-1509dup
NM_001407978.1:c.788-1510_788-1509dup
NM_001407979.1:c.788-1510_788-1509dup
NM_001407980.1:c.788-1510_788-1509dup
NM_001407981.1:c.788-1510_788-1509dup
NM_001407982.1:c.788-1510_788-1509dup
NM_001407983.1:c.788-1510_788-1509dup
NM_001407984.1:c.785-1510_785-1509dup
NM_001407985.1:c.785-1510_785-1509dup
NM_001407986.1:c.785-1510_785-1509dup
NM_001407990.1:c.788-1510_788-1509dup
NM_001407991.1:c.785-1510_785-1509dup
NM_001407992.1:c.785-1510_785-1509dup
NM_001407993.1:c.788-1510_788-1509dup
NM_001408392.1:c.785-1510_785-1509dup
NM_001408396.1:c.785-1510_785-1509dup
NM_001408397.1:c.785-1510_785-1509dup
NM_001408398.1:c.785-1510_785-1509dup
NM_001408399.1:c.785-1510_785-1509dup
NM_001408400.1:c.785-1510_785-1509dup
NM_001408401.1:c.785-1510_785-1509dup
NM_001408402.1:c.785-1510_785-1509dup
NM_001408403.1:c.788-1510_788-1509dup
NM_001408404.1:c.788-1510_788-1509dup
NM_001408406.1:c.791-1519_791-1518dup
NM_001408407.1:c.785-1510_785-1509dup
NM_001408408.1:c.779-1510_779-1509dup
NM_001408409.1:c.710-1510_710-1509dup
NM_001408410.1:c.647-1510_647-1509dup
NM_001408411.1:c.710-1510_710-1509dup
NM_001408412.1:c.710-1510_710-1509dup
NM_001408413.1:c.707-1510_707-1509dup
NM_001408414.1:c.710-1510_710-1509dup
NM_001408415.1:c.710-1510_710-1509dup
NM_001408416.1:c.707-1510_707-1509dup
NM_001408418.1:c.671-1510_671-1509dup
NM_001408419.1:c.671-1510_671-1509dup
NM_001408420.1:c.671-1510_671-1509dup
NM_001408421.1:c.668-1510_668-1509dup
NM_001408422.1:c.671-1510_671-1509dup
NM_001408423.1:c.671-1510_671-1509dup
NM_001408424.1:c.668-1510_668-1509dup
NM_001408425.1:c.665-1510_665-1509dup
NM_001408426.1:c.665-1510_665-1509dup
NM_001408427.1:c.665-1510_665-1509dup
NM_001408428.1:c.665-1510_665-1509dup
NM_001408429.1:c.665-1510_665-1509dup
NM_001408430.1:c.665-1510_665-1509dup
NM_001408431.1:c.668-1510_668-1509dup
NM_001408432.1:c.662-1510_662-1509dup
NM_001408433.1:c.662-1510_662-1509dup
NM_001408434.1:c.662-1510_662-1509dup
NM_001408435.1:c.662-1510_662-1509dup
NM_001408436.1:c.665-1510_665-1509dup
NM_001408437.1:c.665-1510_665-1509dup
NM_001408438.1:c.665-1510_665-1509dup
NM_001408439.1:c.665-1510_665-1509dup
NM_001408440.1:c.665-1510_665-1509dup
NM_001408441.1:c.665-1510_665-1509dup
NM_001408442.1:c.665-1510_665-1509dup
NM_001408443.1:c.665-1510_665-1509dup
NM_001408444.1:c.665-1510_665-1509dup
NM_001408445.1:c.662-1510_662-1509dup
NM_001408446.1:c.662-1510_662-1509dup
NM_001408447.1:c.662-1510_662-1509dup
NM_001408448.1:c.662-1510_662-1509dup
NM_001408450.1:c.662-1510_662-1509dup
NM_001408451.1:c.653-1510_653-1509dup
NM_001408452.1:c.647-1510_647-1509dup
NM_001408453.1:c.647-1510_647-1509dup
NM_001408454.1:c.647-1510_647-1509dup
NM_001408455.1:c.647-1510_647-1509dup
NM_001408456.1:c.647-1510_647-1509dup
NM_001408457.1:c.647-1510_647-1509dup
NM_001408458.1:c.647-1510_647-1509dup
NM_001408459.1:c.647-1510_647-1509dup
NM_001408460.1:c.647-1510_647-1509dup
NM_001408461.1:c.647-1510_647-1509dup
NM_001408462.1:c.644-1510_644-1509dup
NM_001408463.1:c.644-1510_644-1509dup
NM_001408464.1:c.644-1510_644-1509dup
NM_001408465.1:c.644-1510_644-1509dup
NM_001408466.1:c.647-1510_647-1509dup
NM_001408467.1:c.647-1510_647-1509dup
NM_001408468.1:c.644-1510_644-1509dup
NM_001408469.1:c.647-1510_647-1509dup
NM_001408470.1:c.644-1510_644-1509dup
NM_001408472.1:c.788-1510_788-1509dup
NM_001408473.1:c.785-1510_785-1509dup
NM_001408474.1:c.587-1510_587-1509dup
NM_001408475.1:c.584-1510_584-1509dup
NM_001408476.1:c.587-1510_587-1509dup
NM_001408478.1:c.578-1510_578-1509dup
NM_001408479.1:c.578-1510_578-1509dup
NM_001408480.1:c.578-1510_578-1509dup
NM_001408481.1:c.578-1510_578-1509dup
NM_001408482.1:c.578-1510_578-1509dup
NM_001408483.1:c.578-1510_578-1509dup
NM_001408484.1:c.578-1510_578-1509dup
NM_001408485.1:c.578-1510_578-1509dup
NM_001408489.1:c.578-1510_578-1509dup
NM_001408490.1:c.575-1510_575-1509dup
NM_001408491.1:c.575-1510_575-1509dup
NM_001408492.1:c.578-1510_578-1509dup
NM_001408493.1:c.575-1510_575-1509dup
NM_001408494.1:c.548-1510_548-1509dup
NM_001408495.1:c.545-1510_545-1509dup
NM_001408496.1:c.524-1510_524-1509dup
NM_001408497.1:c.524-1510_524-1509dup
NM_001408498.1:c.524-1510_524-1509dup
NM_001408499.1:c.524-1510_524-1509dup
NM_001408500.1:c.524-1510_524-1509dup
NM_001408501.1:c.524-1510_524-1509dup
NM_001408502.1:c.455-1510_455-1509dup
NM_001408503.1:c.521-1510_521-1509dup
NM_001408504.1:c.521-1510_521-1509dup
NM_001408505.1:c.521-1510_521-1509dup
NM_001408506.1:c.461-1510_461-1509dup
NM_001408507.1:c.461-1510_461-1509dup
NM_001408508.1:c.452-1510_452-1509dup
NM_001408509.1:c.452-1510_452-1509dup
NM_001408510.1:c.407-1510_407-1509dup
NM_001408511.1:c.404-1510_404-1509dup
NM_001408512.1:c.284-1510_284-1509dup
NM_001408513.1:c.578-1510_578-1509dup
NM_001408514.1:c.578-1510_578-1509dup
NM_007294.4:c.2989_2990dupMANE SELECT
NM_007297.4:c.2848_2849dup
NM_007298.4:c.788-1510_788-1509dup
NM_007299.4:c.788-1510_788-1509dup
NM_007300.4:c.2989_2990dup
NP_001394500.1:p.Asn926fs
NP_001394510.1:p.Asn997fs
NP_001394511.1:p.Asn997fs
NP_001394512.1:p.Asn997fs
NP_001394514.1:p.Asn997fs
NP_001394516.1:p.Asn996fs
NP_001394519.1:p.Asn996fs
NP_001394520.1:p.Asn996fs
NP_001394522.1:p.Asn997fs
NP_001394523.1:p.Asn997fs
NP_001394525.1:p.Asn997fs
NP_001394526.1:p.Asn997fs
NP_001394527.1:p.Asn997fs
NP_001394531.1:p.Asn997fs
NP_001394532.1:p.Asn997fs
NP_001394534.1:p.Asn997fs
NP_001394539.1:p.Asn996fs
NP_001394540.1:p.Asn996fs
NP_001394541.1:p.Asn996fs
NP_001394542.1:p.Asn996fs
NP_001394543.1:p.Asn996fs
NP_001394544.1:p.Asn996fs
NP_001394545.1:p.Asn997fs
NP_001394546.1:p.Asn997fs
NP_001394547.1:p.Asn997fs
NP_001394548.1:p.Asn997fs
NP_001394549.1:p.Asn997fs
NP_001394550.1:p.Asn997fs
NP_001394551.1:p.Asn997fs
NP_001394552.1:p.Asn997fs
NP_001394553.1:p.Asn997fs
NP_001394554.1:p.Asn997fs
NP_001394555.1:p.Asn997fs
NP_001394556.1:p.Asn996fs
NP_001394557.1:p.Asn996fs
NP_001394558.1:p.Asn996fs
NP_001394559.1:p.Asn996fs
NP_001394560.1:p.Asn996fs
NP_001394561.1:p.Asn996fs
NP_001394562.1:p.Asn996fs
NP_001394563.1:p.Asn996fs
NP_001394564.1:p.Asn996fs
NP_001394565.1:p.Asn996fs
NP_001394566.1:p.Asn996fs
NP_001394567.1:p.Asn996fs
NP_001394568.1:p.Asn997fs
NP_001394569.1:p.Asn997fs
NP_001394570.1:p.Asn997fs
NP_001394571.1:p.Asn997fs
NP_001394573.1:p.Asn996fs
NP_001394574.1:p.Asn996fs
NP_001394575.1:p.Asn994fs
NP_001394576.1:p.Asn994fs
NP_001394577.1:p.Asn956fs
NP_001394578.1:p.Asn955fs
NP_001394581.1:p.Asn997fs
NP_001394582.1:p.Asn971fs
NP_001394583.1:p.Asn971fs
NP_001394584.1:p.Asn971fs
NP_001394585.1:p.Asn971fs
NP_001394586.1:p.Asn971fs
NP_001394587.1:p.Asn971fs
NP_001394588.1:p.Asn970fs
NP_001394589.1:p.Asn970fs
NP_001394590.1:p.Asn970fs
NP_001394591.1:p.Asn970fs
NP_001394592.1:p.Asn971fs
NP_001394593.1:p.Asn956fs
NP_001394594.1:p.Asn956fs
NP_001394595.1:p.Asn956fs
NP_001394596.1:p.Asn956fs
NP_001394597.1:p.Asn956fs
NP_001394598.1:p.Asn956fs
NP_001394599.1:p.Asn955fs
NP_001394600.1:p.Asn955fs
NP_001394601.1:p.Asn955fs
NP_001394602.1:p.Asn955fs
NP_001394603.1:p.Asn956fs
NP_001394604.1:p.Asn956fs
NP_001394605.1:p.Asn956fs
NP_001394606.1:p.Asn956fs
NP_001394607.1:p.Asn956fs
NP_001394608.1:p.Asn956fs
NP_001394609.1:p.Asn956fs
NP_001394610.1:p.Asn956fs
NP_001394611.1:p.Asn956fs
NP_001394612.1:p.Asn956fs
NP_001394613.1:p.Asn997fs
NP_001394614.1:p.Asn955fs
NP_001394615.1:p.Asn955fs
NP_001394616.1:p.Asn955fs
NP_001394617.1:p.Asn955fs
NP_001394618.1:p.Asn955fs
NP_001394619.1:p.Asn955fs
NP_001394620.1:p.Asn955fs
NP_001394621.1:p.Asn950fs
NP_001394623.1:p.Asn950fs
NP_001394624.1:p.Asn950fs
NP_001394625.1:p.Asn950fs
NP_001394626.1:p.Asn950fs
NP_001394627.1:p.Asn950fs
NP_001394653.1:p.Asn950fs
NP_001394654.1:p.Asn950fs
NP_001394655.1:p.Asn950fs
NP_001394656.1:p.Asn950fs
NP_001394657.1:p.Asn950fs
NP_001394658.1:p.Asn950fs
NP_001394659.1:p.Asn950fs
NP_001394660.1:p.Asn950fs
NP_001394661.1:p.Asn950fs
NP_001394662.1:p.Asn950fs
NP_001394663.1:p.Asn950fs
NP_001394664.1:p.Asn950fs
NP_001394665.1:p.Asn950fs
NP_001394666.1:p.Asn950fs
NP_001394667.1:p.Asn950fs
NP_001394668.1:p.Asn950fs
NP_001394669.1:p.Asn949fs
NP_001394670.1:p.Asn949fs
NP_001394671.1:p.Asn949fs
NP_001394672.1:p.Asn949fs
NP_001394673.1:p.Asn949fs
NP_001394674.1:p.Asn949fs
NP_001394675.1:p.Asn949fs
NP_001394676.1:p.Asn949fs
NP_001394677.1:p.Asn949fs
NP_001394678.1:p.Asn949fs
NP_001394679.1:p.Asn950fs
NP_001394680.1:p.Asn950fs
NP_001394681.1:p.Asn950fs
NP_001394767.1:p.Asn949fs
NP_001394768.1:p.Asn949fs
NP_001394770.1:p.Asn949fs
NP_001394771.1:p.Asn949fs
NP_001394772.1:p.Asn949fs
NP_001394773.1:p.Asn949fs
NP_001394774.1:p.Asn949fs
NP_001394775.1:p.Asn949fs
NP_001394776.1:p.Asn949fs
NP_001394777.1:p.Asn949fs
NP_001394778.1:p.Asn949fs
NP_001394779.1:p.Asn950fs
NP_001394780.1:p.Asn950fs
NP_001394781.1:p.Asn950fs
NP_001394782.1:p.Asn926fs
NP_001394783.1:p.Asn997fs
NP_001394787.1:p.Asn997fs
NP_001394788.1:p.Asn997fs
NP_001394789.1:p.Asn996fs
NP_001394790.1:p.Asn996fs
NP_001394791.1:p.Asn930fs
NP_001394792.1:p.Asn956fs
NP_001394803.1:p.Asn929fs
NP_001394804.1:p.Asn929fs
NP_001394808.1:p.Asn927fs
NP_001394810.1:p.Asn927fs
NP_001394811.1:p.Asn927fs
NP_001394813.1:p.Asn927fs
NP_001394814.1:p.Asn927fs
NP_001394815.1:p.Asn927fs
NP_001394816.1:p.Asn927fs
NP_001394818.1:p.Asn927fs
NP_001394823.1:p.Asn926fs
NP_001394824.1:p.Asn926fs
NP_001394825.1:p.Asn926fs
NP_001394826.1:p.Asn926fs
NP_001394827.1:p.Asn926fs
NP_001394828.1:p.Asn926fs
NP_001394829.1:p.Asn927fs
NP_001394831.1:p.Asn927fs
NP_001394833.1:p.Asn927fs
NP_001394835.1:p.Asn927fs
NP_001394836.1:p.Asn927fs
NP_001394837.1:p.Asn927fs
NP_001394838.1:p.Asn927fs
NP_001394839.1:p.Asn927fs
NP_001394844.1:p.Asn926fs
NP_001394845.1:p.Asn926fs
NP_001394846.1:p.Asn926fs
NP_001394847.1:p.Asn926fs
NP_001394848.1:p.Asn956fs
NP_001394849.1:p.Asn909fs
NP_001394850.1:p.Asn909fs
NP_001394851.1:p.Asn909fs
NP_001394852.1:p.Asn909fs
NP_001394853.1:p.Asn909fs
NP_001394854.1:p.Asn909fs
NP_001394855.1:p.Asn909fs
NP_001394856.1:p.Asn909fs
NP_001394857.1:p.Asn909fs
NP_001394858.1:p.Asn909fs
NP_001394859.1:p.Asn908fs
NP_001394860.1:p.Asn908fs
NP_001394861.1:p.Asn908fs
NP_001394862.1:p.Asn909fs
NP_001394863.1:p.Asn908fs
NP_001394864.1:p.Asn909fs
NP_001394865.1:p.Asn908fs
NP_001394866.1:p.Asn956fs
NP_001394867.1:p.Asn956fs
NP_001394868.1:p.Asn956fs
NP_001394869.1:p.Asn955fs
NP_001394870.1:p.Asn955fs
NP_001394871.1:p.Asn950fs
NP_001394872.1:p.Asn949fs
NP_001394873.1:p.Asn950fs
NP_001394874.1:p.Asn950fs
NP_001394875.1:p.Asn886fs
NP_001394876.1:p.Asn886fs
NP_001394877.1:p.Asn886fs
NP_001394878.1:p.Asn886fs
NP_001394879.1:p.Asn886fs
NP_001394880.1:p.Asn886fs
NP_001394881.1:p.Asn886fs
NP_001394882.1:p.Asn886fs
NP_001394883.1:p.Asn885fs
NP_001394884.1:p.Asn885fs
NP_001394885.1:p.Asn885fs
NP_001394886.1:p.Asn886fs
NP_001394887.1:p.Asn885fs
NP_001394888.1:p.Asn870fs
NP_001394889.1:p.Asn870fs
NP_001394891.1:p.Asn869fs
NP_001394892.1:p.Asn870fs
NP_001394893.1:p.Asn949fs
NP_001394894.1:p.Asn829fs
NP_001394895.1:p.Asn701fs
NP_001394896.1:p.Asn701fs
NP_009225.1:p.Asn997Lysfs
NP_009225.1:p.Asn997fs
NP_009228.2:p.Asn950fs
NP_009231.2:p.Asn997fs
LRG_292t1:c.2986_2987dup
LRG_292:g.125442_125443dup
LRG_292p1:p.Asn997Lysfs
NC_000017.10:g.41244561_41244562dup
NC_000017.10:g.41244561_41244562dup
NM_007294.3:c.2986_2987dup
NM_007294.3:c.2989_2990dupAA
NM_007294.4:c.2989_2990dup
NM_007294.4:c.2989_2990dupAA
NR_027676.1:n.3122_3123dup
U14680.1:n.3109_3110insAA
p.N997KFS*4

Nucleotide change:

3109insAA

Protein change:

N701fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3109&base_change=ins AA; dbSNP: rs80357829

NCBI 1000 Genomes Browser:

rs80357829

Molecular consequence:

NM_001407571.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.2980_2981dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.2980_2981dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.2911_2912dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.2911_2912dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.2911_2912dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.2911_2912dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.2911_2912dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.2911_2912dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.2908_2909dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.2908_2909dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.2908_2909dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.2908_2909dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.2911_2912dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.2986_2987dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.2788_2789dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.2785_2786dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.2785_2786dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.2779_2780dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.2776_2777dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.2722_2723dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.2722_2723dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.2722_2723dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.2722_2723dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.2725_2726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.2722_2723dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.2866_2867dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.2863_2864dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2656_2657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2656_2657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2656_2657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2656_2657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2656_2657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2656_2657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2656_2657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2656_2657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2653_2654dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2653_2654dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2653_2654dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2656_2657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2653_2654dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2608_2609dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2608_2609dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2605_2606dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2608_2609dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.2845_2846dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2485_2486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2101_2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2101_2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.2848_2849dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2989_2990dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-403_788-402dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-403_788-402dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1519_791-1518dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1510_779-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1510_710-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1510_710-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1510_710-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1510_707-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1510_710-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1510_710-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1510_707-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1510_671-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1510_671-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1510_671-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1510_668-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1510_671-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1510_671-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1510_668-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1510_668-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1510_662-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1510_662-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1510_662-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1510_662-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1510_665-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1510_662-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1510_662-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1510_662-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1510_662-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1510_662-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1510_653-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1510_644-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1510_644-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1510_644-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1510_644-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1510_644-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1510_647-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1510_644-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1510_785-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1510_587-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1510_584-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1510_587-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1510_575-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1510_575-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1510_575-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1510_548-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1510_545-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1510_524-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1510_524-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1510_524-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1510_524-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1510_524-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1510_524-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1510_455-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1510_521-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1510_521-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1510_521-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1510_461-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1510_461-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1510_452-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1510_452-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1510_407-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1510_404-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1510_284-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1510_578-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1510_788-1509dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Homo sapiens phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 ...
Homo sapiens phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha (PIK3C2A), transcript variant 1, mRNA
gi|1677531456|ref|NM_002645.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292515	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 10, 2015)	germline	clinical testing	Citation Link,
SCV001906368	Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV004219332	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Jun 6, 2023)	unknown	clinical testing	PubMed (12) [See all records that cite these PMIDs] 29446198, 24728189, 24504028, 16683254, 16287141, 10188893, 9150151, 29339979, 34697415, 31447099, 31492746, 26467025
SCV004242829	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 6, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]

PMID:: 29446198
PMCID:: PMC5903938

The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

Song H, Cicek MS, Dicks E, Harrington P, Ramus SJ, Cunningham JM, Fridley BL, Tyrer JP, Alsop J, Jimenez-Linan M, Gayther SA, Goode EL, Pharoah PD.

Hum Mol Genet. 2014 Sep 1;23(17):4703-9. doi: 10.1093/hmg/ddu172. Epub 2014 Apr 12.

PubMed [citation]

PMID:: 24728189
PMCID:: PMC4119409

See all PubMed Citations (13)

Details of each submission

From GeneDx, SCV000292515.5

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

Description

This duplication of 2 nucleotides in BRCA1 is denoted c.2989_2990dupAA at the cDNA level and p.Asn997LysfsX4 (N997KfsX4) at the protein level. The normal sequence, with the bases that are duplicated in braces, is GAAA[AA]TCTG. The duplication causes a frameshift, which changes an Asparagine to a Lysine at codon 997, and creates a premature stop codon at position 4 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.2989_2990dupAA, also reported as BRCA1 c.2990_2991insAA, 3108insAA, 3108_3109dupAA, or 3109insAA using alternate nomenclature, has been reported in families with multiple cases of breast and/or ovarian cancer and individuals with epithelial ovarian or fallopian tube cancers (Peelen 1997, Norquist 2010, Song 2014, Cunningham 2014). We consider this variant to be pathogenic.

#	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 Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001906368.1

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219332.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

Description

This variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. In the published literature, this variant has been reported in individuals with ovarian cancer (PMID: 24728189 (2014), 24504028 (2014)) and endometrial cancer (PMID: 31492746 (2019)). The variant has also been observed in multiple individuals/families with hereditary breast and/or ovarian cancer (PMID: 9150151 (1997), 29339979 (2018), 16683254 (2006), 16287141 (2005)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004242829.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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