NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Mar 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000481473.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)]

NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)

HGVS:

NC_000017.10:g.41244539_41244540del
NC_000017.11:g.43092523_43092524del
NG_005905.2:g.125461_125462del
NM_001407571.1:c.2795_2796del
NM_001407581.1:c.3008_3009del
NM_001407582.1:c.3008_3009del
NM_001407583.1:c.3008_3009del
NM_001407585.1:c.3008_3009del
NM_001407587.1:c.3005_3006del
NM_001407590.1:c.3005_3006del
NM_001407591.1:c.3005_3006del
NM_001407593.1:c.3008_3009del
NM_001407594.1:c.3008_3009del
NM_001407596.1:c.3008_3009del
NM_001407597.1:c.3008_3009del
NM_001407598.1:c.3008_3009del
NM_001407602.1:c.3008_3009del
NM_001407603.1:c.3008_3009del
NM_001407605.1:c.3008_3009del
NM_001407610.1:c.3005_3006del
NM_001407611.1:c.3005_3006del
NM_001407612.1:c.3005_3006del
NM_001407613.1:c.3005_3006del
NM_001407614.1:c.3005_3006del
NM_001407615.1:c.3005_3006del
NM_001407616.1:c.3008_3009del
NM_001407617.1:c.3008_3009del
NM_001407618.1:c.3008_3009del
NM_001407619.1:c.3008_3009del
NM_001407620.1:c.3008_3009del
NM_001407621.1:c.3008_3009del
NM_001407622.1:c.3008_3009del
NM_001407623.1:c.3008_3009del
NM_001407624.1:c.3008_3009del
NM_001407625.1:c.3008_3009del
NM_001407626.1:c.3008_3009del
NM_001407627.1:c.3005_3006del
NM_001407628.1:c.3005_3006del
NM_001407629.1:c.3005_3006del
NM_001407630.1:c.3005_3006del
NM_001407631.1:c.3005_3006del
NM_001407632.1:c.3005_3006del
NM_001407633.1:c.3005_3006del
NM_001407634.1:c.3005_3006del
NM_001407635.1:c.3005_3006del
NM_001407636.1:c.3005_3006del
NM_001407637.1:c.3005_3006del
NM_001407638.1:c.3005_3006del
NM_001407639.1:c.3008_3009del
NM_001407640.1:c.3008_3009del
NM_001407641.1:c.3008_3009del
NM_001407642.1:c.3008_3009del
NM_001407644.1:c.3005_3006del
NM_001407645.1:c.3005_3006del
NM_001407646.1:c.2999_3000del
NM_001407647.1:c.2999_3000del
NM_001407648.1:c.2885_2886del
NM_001407649.1:c.2882_2883del
NM_001407652.1:c.3008_3009del
NM_001407653.1:c.2930_2931del
NM_001407654.1:c.2930_2931del
NM_001407655.1:c.2930_2931del
NM_001407656.1:c.2930_2931del
NM_001407657.1:c.2930_2931del
NM_001407658.1:c.2930_2931del
NM_001407659.1:c.2927_2928del
NM_001407660.1:c.2927_2928del
NM_001407661.1:c.2927_2928del
NM_001407662.1:c.2927_2928del
NM_001407663.1:c.2930_2931del
NM_001407664.1:c.2885_2886del
NM_001407665.1:c.2885_2886del
NM_001407666.1:c.2885_2886del
NM_001407667.1:c.2885_2886del
NM_001407668.1:c.2885_2886del
NM_001407669.1:c.2885_2886del
NM_001407670.1:c.2882_2883del
NM_001407671.1:c.2882_2883del
NM_001407672.1:c.2882_2883del
NM_001407673.1:c.2882_2883del
NM_001407674.1:c.2885_2886del
NM_001407675.1:c.2885_2886del
NM_001407676.1:c.2885_2886del
NM_001407677.1:c.2885_2886del
NM_001407678.1:c.2885_2886del
NM_001407679.1:c.2885_2886del
NM_001407680.1:c.2885_2886del
NM_001407681.1:c.2885_2886del
NM_001407682.1:c.2885_2886del
NM_001407683.1:c.2885_2886del
NM_001407684.1:c.3008_3009del
NM_001407685.1:c.2882_2883del
NM_001407686.1:c.2882_2883del
NM_001407687.1:c.2882_2883del
NM_001407688.1:c.2882_2883del
NM_001407689.1:c.2882_2883del
NM_001407690.1:c.2882_2883del
NM_001407691.1:c.2882_2883del
NM_001407692.1:c.2867_2868del
NM_001407694.1:c.2867_2868del
NM_001407695.1:c.2867_2868del
NM_001407696.1:c.2867_2868del
NM_001407697.1:c.2867_2868del
NM_001407698.1:c.2867_2868del
NM_001407724.1:c.2867_2868del
NM_001407725.1:c.2867_2868del
NM_001407726.1:c.2867_2868del
NM_001407727.1:c.2867_2868del
NM_001407728.1:c.2867_2868del
NM_001407729.1:c.2867_2868del
NM_001407730.1:c.2867_2868del
NM_001407731.1:c.2867_2868del
NM_001407732.1:c.2867_2868del
NM_001407733.1:c.2867_2868del
NM_001407734.1:c.2867_2868del
NM_001407735.1:c.2867_2868del
NM_001407736.1:c.2867_2868del
NM_001407737.1:c.2867_2868del
NM_001407738.1:c.2867_2868del
NM_001407739.1:c.2867_2868del
NM_001407740.1:c.2864_2865del
NM_001407741.1:c.2864_2865del
NM_001407742.1:c.2864_2865del
NM_001407743.1:c.2864_2865del
NM_001407744.1:c.2864_2865del
NM_001407745.1:c.2864_2865del
NM_001407746.1:c.2864_2865del
NM_001407747.1:c.2864_2865del
NM_001407748.1:c.2864_2865del
NM_001407749.1:c.2864_2865del
NM_001407750.1:c.2867_2868del
NM_001407751.1:c.2867_2868del
NM_001407752.1:c.2867_2868del
NM_001407838.1:c.2864_2865del
NM_001407839.1:c.2864_2865del
NM_001407841.1:c.2864_2865del
NM_001407842.1:c.2864_2865del
NM_001407843.1:c.2864_2865del
NM_001407844.1:c.2864_2865del
NM_001407845.1:c.2864_2865del
NM_001407846.1:c.2864_2865del
NM_001407847.1:c.2864_2865del
NM_001407848.1:c.2864_2865del
NM_001407849.1:c.2864_2865del
NM_001407850.1:c.2867_2868del
NM_001407851.1:c.2867_2868del
NM_001407852.1:c.2867_2868del
NM_001407853.1:c.2795_2796del
NM_001407854.1:c.3008_3009del
NM_001407858.1:c.3008_3009del
NM_001407859.1:c.3008_3009del
NM_001407860.1:c.3005_3006del
NM_001407861.1:c.3005_3006del
NM_001407862.1:c.2807_2808del
NM_001407863.1:c.2885_2886del
NM_001407874.1:c.2804_2805del
NM_001407875.1:c.2804_2805del
NM_001407879.1:c.2798_2799del
NM_001407881.1:c.2798_2799del
NM_001407882.1:c.2798_2799del
NM_001407884.1:c.2798_2799del
NM_001407885.1:c.2798_2799del
NM_001407886.1:c.2798_2799del
NM_001407887.1:c.2798_2799del
NM_001407889.1:c.2798_2799del
NM_001407894.1:c.2795_2796del
NM_001407895.1:c.2795_2796del
NM_001407896.1:c.2795_2796del
NM_001407897.1:c.2795_2796del
NM_001407898.1:c.2795_2796del
NM_001407899.1:c.2795_2796del
NM_001407900.1:c.2798_2799del
NM_001407902.1:c.2798_2799del
NM_001407904.1:c.2798_2799del
NM_001407906.1:c.2798_2799del
NM_001407907.1:c.2798_2799del
NM_001407908.1:c.2798_2799del
NM_001407909.1:c.2798_2799del
NM_001407910.1:c.2798_2799del
NM_001407915.1:c.2795_2796del
NM_001407916.1:c.2795_2796del
NM_001407917.1:c.2795_2796del
NM_001407918.1:c.2795_2796del
NM_001407919.1:c.2885_2886del
NM_001407920.1:c.2744_2745del
NM_001407921.1:c.2744_2745del
NM_001407922.1:c.2744_2745del
NM_001407923.1:c.2744_2745del
NM_001407924.1:c.2744_2745del
NM_001407925.1:c.2744_2745del
NM_001407926.1:c.2744_2745del
NM_001407927.1:c.2744_2745del
NM_001407928.1:c.2744_2745del
NM_001407929.1:c.2744_2745del
NM_001407930.1:c.2741_2742del
NM_001407931.1:c.2741_2742del
NM_001407932.1:c.2741_2742del
NM_001407933.1:c.2744_2745del
NM_001407934.1:c.2741_2742del
NM_001407935.1:c.2744_2745del
NM_001407936.1:c.2741_2742del
NM_001407937.1:c.2885_2886del
NM_001407938.1:c.2885_2886del
NM_001407939.1:c.2885_2886del
NM_001407940.1:c.2882_2883del
NM_001407941.1:c.2882_2883del
NM_001407942.1:c.2867_2868del
NM_001407943.1:c.2864_2865del
NM_001407944.1:c.2867_2868del
NM_001407945.1:c.2867_2868del
NM_001407946.1:c.2675_2676del
NM_001407947.1:c.2675_2676del
NM_001407948.1:c.2675_2676del
NM_001407949.1:c.2675_2676del
NM_001407950.1:c.2675_2676del
NM_001407951.1:c.2675_2676del
NM_001407952.1:c.2675_2676del
NM_001407953.1:c.2675_2676del
NM_001407954.1:c.2672_2673del
NM_001407955.1:c.2672_2673del
NM_001407956.1:c.2672_2673del
NM_001407957.1:c.2675_2676del
NM_001407958.1:c.2672_2673del
NM_001407959.1:c.2627_2628del
NM_001407960.1:c.2627_2628del
NM_001407962.1:c.2624_2625del
NM_001407963.1:c.2627_2628del
NM_001407964.1:c.2864_2865del
NM_001407965.1:c.2504_2505del
NM_001407966.1:c.2120_2121del
NM_001407967.1:c.2120_2121del
NM_001407968.1:c.788-384_788-383del
NM_001407969.1:c.788-384_788-383del
NM_001407970.1:c.788-1491_788-1490del
NM_001407971.1:c.788-1491_788-1490del
NM_001407972.1:c.785-1491_785-1490del
NM_001407973.1:c.788-1491_788-1490del
NM_001407974.1:c.788-1491_788-1490del
NM_001407975.1:c.788-1491_788-1490del
NM_001407976.1:c.788-1491_788-1490del
NM_001407977.1:c.788-1491_788-1490del
NM_001407978.1:c.788-1491_788-1490del
NM_001407979.1:c.788-1491_788-1490del
NM_001407980.1:c.788-1491_788-1490del
NM_001407981.1:c.788-1491_788-1490del
NM_001407982.1:c.788-1491_788-1490del
NM_001407983.1:c.788-1491_788-1490del
NM_001407984.1:c.785-1491_785-1490del
NM_001407985.1:c.785-1491_785-1490del
NM_001407986.1:c.785-1491_785-1490del
NM_001407990.1:c.788-1491_788-1490del
NM_001407991.1:c.785-1491_785-1490del
NM_001407992.1:c.785-1491_785-1490del
NM_001407993.1:c.788-1491_788-1490del
NM_001408392.1:c.785-1491_785-1490del
NM_001408396.1:c.785-1491_785-1490del
NM_001408397.1:c.785-1491_785-1490del
NM_001408398.1:c.785-1491_785-1490del
NM_001408399.1:c.785-1491_785-1490del
NM_001408400.1:c.785-1491_785-1490del
NM_001408401.1:c.785-1491_785-1490del
NM_001408402.1:c.785-1491_785-1490del
NM_001408403.1:c.788-1491_788-1490del
NM_001408404.1:c.788-1491_788-1490del
NM_001408406.1:c.791-1500_791-1499del
NM_001408407.1:c.785-1491_785-1490del
NM_001408408.1:c.779-1491_779-1490del
NM_001408409.1:c.710-1491_710-1490del
NM_001408410.1:c.647-1491_647-1490del
NM_001408411.1:c.710-1491_710-1490del
NM_001408412.1:c.710-1491_710-1490del
NM_001408413.1:c.707-1491_707-1490del
NM_001408414.1:c.710-1491_710-1490del
NM_001408415.1:c.710-1491_710-1490del
NM_001408416.1:c.707-1491_707-1490del
NM_001408418.1:c.671-1491_671-1490del
NM_001408419.1:c.671-1491_671-1490del
NM_001408420.1:c.671-1491_671-1490del
NM_001408421.1:c.668-1491_668-1490del
NM_001408422.1:c.671-1491_671-1490del
NM_001408423.1:c.671-1491_671-1490del
NM_001408424.1:c.668-1491_668-1490del
NM_001408425.1:c.665-1491_665-1490del
NM_001408426.1:c.665-1491_665-1490del
NM_001408427.1:c.665-1491_665-1490del
NM_001408428.1:c.665-1491_665-1490del
NM_001408429.1:c.665-1491_665-1490del
NM_001408430.1:c.665-1491_665-1490del
NM_001408431.1:c.668-1491_668-1490del
NM_001408432.1:c.662-1491_662-1490del
NM_001408433.1:c.662-1491_662-1490del
NM_001408434.1:c.662-1491_662-1490del
NM_001408435.1:c.662-1491_662-1490del
NM_001408436.1:c.665-1491_665-1490del
NM_001408437.1:c.665-1491_665-1490del
NM_001408438.1:c.665-1491_665-1490del
NM_001408439.1:c.665-1491_665-1490del
NM_001408440.1:c.665-1491_665-1490del
NM_001408441.1:c.665-1491_665-1490del
NM_001408442.1:c.665-1491_665-1490del
NM_001408443.1:c.665-1491_665-1490del
NM_001408444.1:c.665-1491_665-1490del
NM_001408445.1:c.662-1491_662-1490del
NM_001408446.1:c.662-1491_662-1490del
NM_001408447.1:c.662-1491_662-1490del
NM_001408448.1:c.662-1491_662-1490del
NM_001408450.1:c.662-1491_662-1490del
NM_001408451.1:c.653-1491_653-1490del
NM_001408452.1:c.647-1491_647-1490del
NM_001408453.1:c.647-1491_647-1490del
NM_001408454.1:c.647-1491_647-1490del
NM_001408455.1:c.647-1491_647-1490del
NM_001408456.1:c.647-1491_647-1490del
NM_001408457.1:c.647-1491_647-1490del
NM_001408458.1:c.647-1491_647-1490del
NM_001408459.1:c.647-1491_647-1490del
NM_001408460.1:c.647-1491_647-1490del
NM_001408461.1:c.647-1491_647-1490del
NM_001408462.1:c.644-1491_644-1490del
NM_001408463.1:c.644-1491_644-1490del
NM_001408464.1:c.644-1491_644-1490del
NM_001408465.1:c.644-1491_644-1490del
NM_001408466.1:c.647-1491_647-1490del
NM_001408467.1:c.647-1491_647-1490del
NM_001408468.1:c.644-1491_644-1490del
NM_001408469.1:c.647-1491_647-1490del
NM_001408470.1:c.644-1491_644-1490del
NM_001408472.1:c.788-1491_788-1490del
NM_001408473.1:c.785-1491_785-1490del
NM_001408474.1:c.587-1491_587-1490del
NM_001408475.1:c.584-1491_584-1490del
NM_001408476.1:c.587-1491_587-1490del
NM_001408478.1:c.578-1491_578-1490del
NM_001408479.1:c.578-1491_578-1490del
NM_001408480.1:c.578-1491_578-1490del
NM_001408481.1:c.578-1491_578-1490del
NM_001408482.1:c.578-1491_578-1490del
NM_001408483.1:c.578-1491_578-1490del
NM_001408484.1:c.578-1491_578-1490del
NM_001408485.1:c.578-1491_578-1490del
NM_001408489.1:c.578-1491_578-1490del
NM_001408490.1:c.575-1491_575-1490del
NM_001408491.1:c.575-1491_575-1490del
NM_001408492.1:c.578-1491_578-1490del
NM_001408493.1:c.575-1491_575-1490del
NM_001408494.1:c.548-1491_548-1490del
NM_001408495.1:c.545-1491_545-1490del
NM_001408496.1:c.524-1491_524-1490del
NM_001408497.1:c.524-1491_524-1490del
NM_001408498.1:c.524-1491_524-1490del
NM_001408499.1:c.524-1491_524-1490del
NM_001408500.1:c.524-1491_524-1490del
NM_001408501.1:c.524-1491_524-1490del
NM_001408502.1:c.455-1491_455-1490del
NM_001408503.1:c.521-1491_521-1490del
NM_001408504.1:c.521-1491_521-1490del
NM_001408505.1:c.521-1491_521-1490del
NM_001408506.1:c.461-1491_461-1490del
NM_001408507.1:c.461-1491_461-1490del
NM_001408508.1:c.452-1491_452-1490del
NM_001408509.1:c.452-1491_452-1490del
NM_001408510.1:c.407-1491_407-1490del
NM_001408511.1:c.404-1491_404-1490del
NM_001408512.1:c.284-1491_284-1490del
NM_001408513.1:c.578-1491_578-1490del
NM_001408514.1:c.578-1491_578-1490del
NM_007294.4:c.3008_3009delMANE SELECT
NM_007297.4:c.2867_2868del
NM_007298.4:c.788-1491_788-1490del
NM_007299.4:c.788-1491_788-1490del
NM_007300.4:c.3008_3009del
NP_001394500.1:p.Asn931_Phe932insTer
NP_001394510.1:p.Asn1002_Phe1003insTer
NP_001394511.1:p.Asn1002_Phe1003insTer
NP_001394512.1:p.Asn1002_Phe1003insTer
NP_001394514.1:p.Asn1002_Phe1003insTer
NP_001394516.1:p.Asn1001_Phe1002insTer
NP_001394519.1:p.Asn1001_Phe1002insTer
NP_001394520.1:p.Asn1001_Phe1002insTer
NP_001394522.1:p.Asn1002_Phe1003insTer
NP_001394523.1:p.Asn1002_Phe1003insTer
NP_001394525.1:p.Asn1002_Phe1003insTer
NP_001394526.1:p.Asn1002_Phe1003insTer
NP_001394527.1:p.Asn1002_Phe1003insTer
NP_001394531.1:p.Asn1002_Phe1003insTer
NP_001394532.1:p.Asn1002_Phe1003insTer
NP_001394534.1:p.Asn1002_Phe1003insTer
NP_001394539.1:p.Asn1001_Phe1002insTer
NP_001394540.1:p.Asn1001_Phe1002insTer
NP_001394541.1:p.Asn1001_Phe1002insTer
NP_001394542.1:p.Asn1001_Phe1002insTer
NP_001394543.1:p.Asn1001_Phe1002insTer
NP_001394544.1:p.Asn1001_Phe1002insTer
NP_001394545.1:p.Asn1002_Phe1003insTer
NP_001394546.1:p.Asn1002_Phe1003insTer
NP_001394547.1:p.Asn1002_Phe1003insTer
NP_001394548.1:p.Asn1002_Phe1003insTer
NP_001394549.1:p.Asn1002_Phe1003insTer
NP_001394550.1:p.Asn1002_Phe1003insTer
NP_001394551.1:p.Asn1002_Phe1003insTer
NP_001394552.1:p.Asn1002_Phe1003insTer
NP_001394553.1:p.Asn1002_Phe1003insTer
NP_001394554.1:p.Asn1002_Phe1003insTer
NP_001394555.1:p.Asn1002_Phe1003insTer
NP_001394556.1:p.Asn1001_Phe1002insTer
NP_001394557.1:p.Asn1001_Phe1002insTer
NP_001394558.1:p.Asn1001_Phe1002insTer
NP_001394559.1:p.Asn1001_Phe1002insTer
NP_001394560.1:p.Asn1001_Phe1002insTer
NP_001394561.1:p.Asn1001_Phe1002insTer
NP_001394562.1:p.Asn1001_Phe1002insTer
NP_001394563.1:p.Asn1001_Phe1002insTer
NP_001394564.1:p.Asn1001_Phe1002insTer
NP_001394565.1:p.Asn1001_Phe1002insTer
NP_001394566.1:p.Asn1001_Phe1002insTer
NP_001394567.1:p.Asn1001_Phe1002insTer
NP_001394568.1:p.Asn1002_Phe1003insTer
NP_001394569.1:p.Asn1002_Phe1003insTer
NP_001394570.1:p.Asn1002_Phe1003insTer
NP_001394571.1:p.Asn1002_Phe1003insTer
NP_001394573.1:p.Asn1001_Phe1002insTer
NP_001394574.1:p.Asn1001_Phe1002insTer
NP_001394575.1:p.Asn999_Phe1000insTer
NP_001394576.1:p.Asn999_Phe1000insTer
NP_001394577.1:p.Asn961_Phe962insTer
NP_001394578.1:p.Asn960_Phe961insTer
NP_001394581.1:p.Asn1002_Phe1003insTer
NP_001394582.1:p.Asn976_Phe977insTer
NP_001394583.1:p.Asn976_Phe977insTer
NP_001394584.1:p.Asn976_Phe977insTer
NP_001394585.1:p.Asn976_Phe977insTer
NP_001394586.1:p.Asn976_Phe977insTer
NP_001394587.1:p.Asn976_Phe977insTer
NP_001394588.1:p.Asn975_Phe976insTer
NP_001394589.1:p.Asn975_Phe976insTer
NP_001394590.1:p.Asn975_Phe976insTer
NP_001394591.1:p.Asn975_Phe976insTer
NP_001394592.1:p.Asn976_Phe977insTer
NP_001394593.1:p.Asn961_Phe962insTer
NP_001394594.1:p.Asn961_Phe962insTer
NP_001394595.1:p.Asn961_Phe962insTer
NP_001394596.1:p.Asn961_Phe962insTer
NP_001394597.1:p.Asn961_Phe962insTer
NP_001394598.1:p.Asn961_Phe962insTer
NP_001394599.1:p.Asn960_Phe961insTer
NP_001394600.1:p.Asn960_Phe961insTer
NP_001394601.1:p.Asn960_Phe961insTer
NP_001394602.1:p.Asn960_Phe961insTer
NP_001394603.1:p.Asn961_Phe962insTer
NP_001394604.1:p.Asn961_Phe962insTer
NP_001394605.1:p.Asn961_Phe962insTer
NP_001394606.1:p.Asn961_Phe962insTer
NP_001394607.1:p.Asn961_Phe962insTer
NP_001394608.1:p.Asn961_Phe962insTer
NP_001394609.1:p.Asn961_Phe962insTer
NP_001394610.1:p.Asn961_Phe962insTer
NP_001394611.1:p.Asn961_Phe962insTer
NP_001394612.1:p.Asn961_Phe962insTer
NP_001394613.1:p.Asn1002_Phe1003insTer
NP_001394614.1:p.Asn960_Phe961insTer
NP_001394615.1:p.Asn960_Phe961insTer
NP_001394616.1:p.Asn960_Phe961insTer
NP_001394617.1:p.Asn960_Phe961insTer
NP_001394618.1:p.Asn960_Phe961insTer
NP_001394619.1:p.Asn960_Phe961insTer
NP_001394620.1:p.Asn960_Phe961insTer
NP_001394621.1:p.Asn955_Phe956insTer
NP_001394623.1:p.Asn955_Phe956insTer
NP_001394624.1:p.Asn955_Phe956insTer
NP_001394625.1:p.Asn955_Phe956insTer
NP_001394626.1:p.Asn955_Phe956insTer
NP_001394627.1:p.Asn955_Phe956insTer
NP_001394653.1:p.Asn955_Phe956insTer
NP_001394654.1:p.Asn955_Phe956insTer
NP_001394655.1:p.Asn955_Phe956insTer
NP_001394656.1:p.Asn955_Phe956insTer
NP_001394657.1:p.Asn955_Phe956insTer
NP_001394658.1:p.Asn955_Phe956insTer
NP_001394659.1:p.Asn955_Phe956insTer
NP_001394660.1:p.Asn955_Phe956insTer
NP_001394661.1:p.Asn955_Phe956insTer
NP_001394662.1:p.Asn955_Phe956insTer
NP_001394663.1:p.Asn955_Phe956insTer
NP_001394664.1:p.Asn955_Phe956insTer
NP_001394665.1:p.Asn955_Phe956insTer
NP_001394666.1:p.Asn955_Phe956insTer
NP_001394667.1:p.Asn955_Phe956insTer
NP_001394668.1:p.Asn955_Phe956insTer
NP_001394669.1:p.Asn954_Phe955insTer
NP_001394670.1:p.Asn954_Phe955insTer
NP_001394671.1:p.Asn954_Phe955insTer
NP_001394672.1:p.Asn954_Phe955insTer
NP_001394673.1:p.Asn954_Phe955insTer
NP_001394674.1:p.Asn954_Phe955insTer
NP_001394675.1:p.Asn954_Phe955insTer
NP_001394676.1:p.Asn954_Phe955insTer
NP_001394677.1:p.Asn954_Phe955insTer
NP_001394678.1:p.Asn954_Phe955insTer
NP_001394679.1:p.Asn955_Phe956insTer
NP_001394680.1:p.Asn955_Phe956insTer
NP_001394681.1:p.Asn955_Phe956insTer
NP_001394767.1:p.Asn954_Phe955insTer
NP_001394768.1:p.Asn954_Phe955insTer
NP_001394770.1:p.Asn954_Phe955insTer
NP_001394771.1:p.Asn954_Phe955insTer
NP_001394772.1:p.Asn954_Phe955insTer
NP_001394773.1:p.Asn954_Phe955insTer
NP_001394774.1:p.Asn954_Phe955insTer
NP_001394775.1:p.Asn954_Phe955insTer
NP_001394776.1:p.Asn954_Phe955insTer
NP_001394777.1:p.Asn954_Phe955insTer
NP_001394778.1:p.Asn954_Phe955insTer
NP_001394779.1:p.Asn955_Phe956insTer
NP_001394780.1:p.Asn955_Phe956insTer
NP_001394781.1:p.Asn955_Phe956insTer
NP_001394782.1:p.Asn931_Phe932insTer
NP_001394783.1:p.Asn1002_Phe1003insTer
NP_001394787.1:p.Asn1002_Phe1003insTer
NP_001394788.1:p.Asn1002_Phe1003insTer
NP_001394789.1:p.Asn1001_Phe1002insTer
NP_001394790.1:p.Asn1001_Phe1002insTer
NP_001394791.1:p.Asn935_Phe936insTer
NP_001394792.1:p.Asn961_Phe962insTer
NP_001394803.1:p.Asn934_Phe935insTer
NP_001394804.1:p.Asn934_Phe935insTer
NP_001394808.1:p.Asn932_Phe933insTer
NP_001394810.1:p.Asn932_Phe933insTer
NP_001394811.1:p.Asn932_Phe933insTer
NP_001394813.1:p.Asn932_Phe933insTer
NP_001394814.1:p.Asn932_Phe933insTer
NP_001394815.1:p.Asn932_Phe933insTer
NP_001394816.1:p.Asn932_Phe933insTer
NP_001394818.1:p.Asn932_Phe933insTer
NP_001394823.1:p.Asn931_Phe932insTer
NP_001394824.1:p.Asn931_Phe932insTer
NP_001394825.1:p.Asn931_Phe932insTer
NP_001394826.1:p.Asn931_Phe932insTer
NP_001394827.1:p.Asn931_Phe932insTer
NP_001394828.1:p.Asn931_Phe932insTer
NP_001394829.1:p.Asn932_Phe933insTer
NP_001394831.1:p.Asn932_Phe933insTer
NP_001394833.1:p.Asn932_Phe933insTer
NP_001394835.1:p.Asn932_Phe933insTer
NP_001394836.1:p.Asn932_Phe933insTer
NP_001394837.1:p.Asn932_Phe933insTer
NP_001394838.1:p.Asn932_Phe933insTer
NP_001394839.1:p.Asn932_Phe933insTer
NP_001394844.1:p.Asn931_Phe932insTer
NP_001394845.1:p.Asn931_Phe932insTer
NP_001394846.1:p.Asn931_Phe932insTer
NP_001394847.1:p.Asn931_Phe932insTer
NP_001394848.1:p.Asn961_Phe962insTer
NP_001394849.1:p.Asn914_Phe915insTer
NP_001394850.1:p.Asn914_Phe915insTer
NP_001394851.1:p.Asn914_Phe915insTer
NP_001394852.1:p.Asn914_Phe915insTer
NP_001394853.1:p.Asn914_Phe915insTer
NP_001394854.1:p.Asn914_Phe915insTer
NP_001394855.1:p.Asn914_Phe915insTer
NP_001394856.1:p.Asn914_Phe915insTer
NP_001394857.1:p.Asn914_Phe915insTer
NP_001394858.1:p.Asn914_Phe915insTer
NP_001394859.1:p.Asn913_Phe914insTer
NP_001394860.1:p.Asn913_Phe914insTer
NP_001394861.1:p.Asn913_Phe914insTer
NP_001394862.1:p.Asn914_Phe915insTer
NP_001394863.1:p.Asn913_Phe914insTer
NP_001394864.1:p.Asn914_Phe915insTer
NP_001394865.1:p.Asn913_Phe914insTer
NP_001394866.1:p.Asn961_Phe962insTer
NP_001394867.1:p.Asn961_Phe962insTer
NP_001394868.1:p.Asn961_Phe962insTer
NP_001394869.1:p.Asn960_Phe961insTer
NP_001394870.1:p.Asn960_Phe961insTer
NP_001394871.1:p.Asn955_Phe956insTer
NP_001394872.1:p.Asn954_Phe955insTer
NP_001394873.1:p.Asn955_Phe956insTer
NP_001394874.1:p.Asn955_Phe956insTer
NP_001394875.1:p.Asn891_Phe892insTer
NP_001394876.1:p.Asn891_Phe892insTer
NP_001394877.1:p.Asn891_Phe892insTer
NP_001394878.1:p.Asn891_Phe892insTer
NP_001394879.1:p.Asn891_Phe892insTer
NP_001394880.1:p.Asn891_Phe892insTer
NP_001394881.1:p.Asn891_Phe892insTer
NP_001394882.1:p.Asn891_Phe892insTer
NP_001394883.1:p.Asn890_Phe891insTer
NP_001394884.1:p.Asn890_Phe891insTer
NP_001394885.1:p.Asn890_Phe891insTer
NP_001394886.1:p.Asn891_Phe892insTer
NP_001394887.1:p.Asn890_Phe891insTer
NP_001394888.1:p.Asn875_Phe876insTer
NP_001394889.1:p.Asn875_Phe876insTer
NP_001394891.1:p.Asn874_Phe875insTer
NP_001394892.1:p.Asn875_Phe876insTer
NP_001394893.1:p.Asn954_Phe955insTer
NP_001394894.1:p.Asn834_Phe835insTer
NP_001394895.1:p.Asn706_Phe707insTer
NP_001394896.1:p.Asn706_Phe707insTer
NP_009225.1:p.Asn1002_Phe1003insTer
NP_009225.1:p.Phe1003Terfs
NP_009228.2:p.Asn955_Phe956insTer
NP_009231.2:p.Asn1002_Phe1003insTer
LRG_292t1:c.3007_3008del
LRG_292:g.125461_125462del
LRG_292p1:p.Phe1003Terfs
NC_000017.10:g.41244539_41244540del
NC_000017.10:g.41244539_41244540delAA
NC_000017.10:g.41244540_41244541del
NC_000017.10:g.41244540_41244541del
NM_007294.3:c.3007_3008delTT
NM_007294.3:c.3008_3009delTT
NR_027676.1:n.3143_3144delTT
U14680.1:n.3127_3128delTT
p.F1003*

Nucleotide change:

3127delTT

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3127&base_change=del TT; dbSNP: rs80357617

NCBI 1000 Genomes Browser:

rs80357617

Molecular consequence:

NM_001407968.1:c.788-384_788-383del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-384_788-383del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1500_791-1499del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1491_779-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1491_707-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1491_710-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1491_707-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1491_668-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1491_671-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1491_668-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1491_668-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1491_665-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1491_662-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1491_653-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1491_647-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1491_644-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1491_785-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1491_587-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1491_584-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1491_587-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1491_575-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1491_575-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1491_575-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1491_548-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1491_545-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1491_524-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1491_455-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1491_521-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1491_521-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1491_521-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1491_461-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1491_461-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1491_452-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1491_452-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1491_407-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1491_404-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1491_284-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1491_578-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1491_788-1490del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.2999_3000del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.2999_3000del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.2927_2928del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.2927_2928del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.2927_2928del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.2927_2928del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.2930_2931del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3005_3006del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.2807_2808del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.2804_2805del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.2804_2805del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.2798_2799del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.2795_2796del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2744_2745del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2741_2742del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.2885_2886del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.2882_2883del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2672_2673del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2672_2673del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2672_2673del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2675_2676del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2672_2673del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2627_2628del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2627_2628del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2624_2625del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2627_2628del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.2864_2865del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2504_2505del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2120_2121del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2120_2121del - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.2867_2868del - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3008_3009del - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000566166	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 3, 2022)	germline	clinical testing	Citation Link,
SCV000888879	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Feb 3, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001449632	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 23, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005198073	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

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

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

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

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000566166.6

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Observed in individuals with a personal history of BRCA1-related cancers (Wagner et al., 1999; Singh et al., 2018; Wen et al., 2018); This variant is associated with the following publications: (PMID: 26733283, 28993434, 20609467, 10644434, 29470806)

#	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, SCV000888879.2

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

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

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV001449632.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005198073.1

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

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

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine