NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 18, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000112233.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs)]

NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Insertion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs)

Other names:

4169insG

HGVS:

NC_000017.11:g.43091480_43091481insC
NG_005905.2:g.126503_126504insG
NG_087068.1:g.462_463insC
NM_001407571.1:c.3837_3838insG
NM_001407581.1:c.4050_4051insG
NM_001407582.1:c.4050_4051insG
NM_001407583.1:c.4050_4051insG
NM_001407585.1:c.4050_4051insG
NM_001407587.1:c.4047_4048insG
NM_001407590.1:c.4047_4048insG
NM_001407591.1:c.4047_4048insG
NM_001407593.1:c.4050_4051insG
NM_001407594.1:c.4050_4051insG
NM_001407596.1:c.4050_4051insG
NM_001407597.1:c.4050_4051insG
NM_001407598.1:c.4050_4051insG
NM_001407602.1:c.4050_4051insG
NM_001407603.1:c.4050_4051insG
NM_001407605.1:c.4050_4051insG
NM_001407610.1:c.4047_4048insG
NM_001407611.1:c.4047_4048insG
NM_001407612.1:c.4047_4048insG
NM_001407613.1:c.4047_4048insG
NM_001407614.1:c.4047_4048insG
NM_001407615.1:c.4047_4048insG
NM_001407616.1:c.4050_4051insG
NM_001407617.1:c.4050_4051insG
NM_001407618.1:c.4050_4051insG
NM_001407619.1:c.4050_4051insG
NM_001407620.1:c.4050_4051insG
NM_001407621.1:c.4050_4051insG
NM_001407622.1:c.4050_4051insG
NM_001407623.1:c.4050_4051insG
NM_001407624.1:c.4050_4051insG
NM_001407625.1:c.4050_4051insG
NM_001407626.1:c.4050_4051insG
NM_001407627.1:c.4047_4048insG
NM_001407628.1:c.4047_4048insG
NM_001407629.1:c.4047_4048insG
NM_001407630.1:c.4047_4048insG
NM_001407631.1:c.4047_4048insG
NM_001407632.1:c.4047_4048insG
NM_001407633.1:c.4047_4048insG
NM_001407634.1:c.4047_4048insG
NM_001407635.1:c.4047_4048insG
NM_001407636.1:c.4047_4048insG
NM_001407637.1:c.4047_4048insG
NM_001407638.1:c.4047_4048insG
NM_001407639.1:c.4050_4051insG
NM_001407640.1:c.4050_4051insG
NM_001407641.1:c.4050_4051insG
NM_001407642.1:c.4050_4051insG
NM_001407644.1:c.4047_4048insG
NM_001407645.1:c.4047_4048insG
NM_001407646.1:c.4041_4042insG
NM_001407647.1:c.4041_4042insG
NM_001407648.1:c.3927_3928insG
NM_001407649.1:c.3924_3925insG
NM_001407652.1:c.4050_4051insG
NM_001407653.1:c.3972_3973insG
NM_001407654.1:c.3972_3973insG
NM_001407655.1:c.3972_3973insG
NM_001407656.1:c.3972_3973insG
NM_001407657.1:c.3972_3973insG
NM_001407658.1:c.3972_3973insG
NM_001407659.1:c.3969_3970insG
NM_001407660.1:c.3969_3970insG
NM_001407661.1:c.3969_3970insG
NM_001407662.1:c.3969_3970insG
NM_001407663.1:c.3972_3973insG
NM_001407664.1:c.3927_3928insG
NM_001407665.1:c.3927_3928insG
NM_001407666.1:c.3927_3928insG
NM_001407667.1:c.3927_3928insG
NM_001407668.1:c.3927_3928insG
NM_001407669.1:c.3927_3928insG
NM_001407670.1:c.3924_3925insG
NM_001407671.1:c.3924_3925insG
NM_001407672.1:c.3924_3925insG
NM_001407673.1:c.3924_3925insG
NM_001407674.1:c.3927_3928insG
NM_001407675.1:c.3927_3928insG
NM_001407676.1:c.3927_3928insG
NM_001407677.1:c.3927_3928insG
NM_001407678.1:c.3927_3928insG
NM_001407679.1:c.3927_3928insG
NM_001407680.1:c.3927_3928insG
NM_001407681.1:c.3927_3928insG
NM_001407682.1:c.3927_3928insG
NM_001407683.1:c.3927_3928insG
NM_001407684.1:c.4050_4051insG
NM_001407685.1:c.3924_3925insG
NM_001407686.1:c.3924_3925insG
NM_001407687.1:c.3924_3925insG
NM_001407688.1:c.3924_3925insG
NM_001407689.1:c.3924_3925insG
NM_001407690.1:c.3924_3925insG
NM_001407691.1:c.3924_3925insG
NM_001407692.1:c.3909_3910insG
NM_001407694.1:c.3909_3910insG
NM_001407695.1:c.3909_3910insG
NM_001407696.1:c.3909_3910insG
NM_001407697.1:c.3909_3910insG
NM_001407698.1:c.3909_3910insG
NM_001407724.1:c.3909_3910insG
NM_001407725.1:c.3909_3910insG
NM_001407726.1:c.3909_3910insG
NM_001407727.1:c.3909_3910insG
NM_001407728.1:c.3909_3910insG
NM_001407729.1:c.3909_3910insG
NM_001407730.1:c.3909_3910insG
NM_001407731.1:c.3909_3910insG
NM_001407732.1:c.3909_3910insG
NM_001407733.1:c.3909_3910insG
NM_001407734.1:c.3909_3910insG
NM_001407735.1:c.3909_3910insG
NM_001407736.1:c.3909_3910insG
NM_001407737.1:c.3909_3910insG
NM_001407738.1:c.3909_3910insG
NM_001407739.1:c.3909_3910insG
NM_001407740.1:c.3906_3907insG
NM_001407741.1:c.3906_3907insG
NM_001407742.1:c.3906_3907insG
NM_001407743.1:c.3906_3907insG
NM_001407744.1:c.3906_3907insG
NM_001407745.1:c.3906_3907insG
NM_001407746.1:c.3906_3907insG
NM_001407747.1:c.3906_3907insG
NM_001407748.1:c.3906_3907insG
NM_001407749.1:c.3906_3907insG
NM_001407750.1:c.3909_3910insG
NM_001407751.1:c.3909_3910insG
NM_001407752.1:c.3909_3910insG
NM_001407838.1:c.3906_3907insG
NM_001407839.1:c.3906_3907insG
NM_001407841.1:c.3906_3907insG
NM_001407842.1:c.3906_3907insG
NM_001407843.1:c.3906_3907insG
NM_001407844.1:c.3906_3907insG
NM_001407845.1:c.3906_3907insG
NM_001407846.1:c.3906_3907insG
NM_001407847.1:c.3906_3907insG
NM_001407848.1:c.3906_3907insG
NM_001407849.1:c.3906_3907insG
NM_001407850.1:c.3909_3910insG
NM_001407851.1:c.3909_3910insG
NM_001407852.1:c.3909_3910insG
NM_001407853.1:c.3837_3838insG
NM_001407854.1:c.4050_4051insG
NM_001407858.1:c.4050_4051insG
NM_001407859.1:c.4050_4051insG
NM_001407860.1:c.4047_4048insG
NM_001407861.1:c.4047_4048insG
NM_001407862.1:c.3849_3850insG
NM_001407863.1:c.3927_3928insG
NM_001407874.1:c.3846_3847insG
NM_001407875.1:c.3846_3847insG
NM_001407879.1:c.3840_3841insG
NM_001407881.1:c.3840_3841insG
NM_001407882.1:c.3840_3841insG
NM_001407884.1:c.3840_3841insG
NM_001407885.1:c.3840_3841insG
NM_001407886.1:c.3840_3841insG
NM_001407887.1:c.3840_3841insG
NM_001407889.1:c.3840_3841insG
NM_001407894.1:c.3837_3838insG
NM_001407895.1:c.3837_3838insG
NM_001407896.1:c.3837_3838insG
NM_001407897.1:c.3837_3838insG
NM_001407898.1:c.3837_3838insG
NM_001407899.1:c.3837_3838insG
NM_001407900.1:c.3840_3841insG
NM_001407902.1:c.3840_3841insG
NM_001407904.1:c.3840_3841insG
NM_001407906.1:c.3840_3841insG
NM_001407907.1:c.3840_3841insG
NM_001407908.1:c.3840_3841insG
NM_001407909.1:c.3840_3841insG
NM_001407910.1:c.3840_3841insG
NM_001407915.1:c.3837_3838insG
NM_001407916.1:c.3837_3838insG
NM_001407917.1:c.3837_3838insG
NM_001407918.1:c.3837_3838insG
NM_001407919.1:c.3927_3928insG
NM_001407920.1:c.3786_3787insG
NM_001407921.1:c.3786_3787insG
NM_001407922.1:c.3786_3787insG
NM_001407923.1:c.3786_3787insG
NM_001407924.1:c.3786_3787insG
NM_001407925.1:c.3786_3787insG
NM_001407926.1:c.3786_3787insG
NM_001407927.1:c.3786_3787insG
NM_001407928.1:c.3786_3787insG
NM_001407929.1:c.3786_3787insG
NM_001407930.1:c.3783_3784insG
NM_001407931.1:c.3783_3784insG
NM_001407932.1:c.3783_3784insG
NM_001407933.1:c.3786_3787insG
NM_001407934.1:c.3783_3784insG
NM_001407935.1:c.3786_3787insG
NM_001407936.1:c.3783_3784insG
NM_001407937.1:c.3927_3928insG
NM_001407938.1:c.3927_3928insG
NM_001407939.1:c.3927_3928insG
NM_001407940.1:c.3924_3925insG
NM_001407941.1:c.3924_3925insG
NM_001407942.1:c.3909_3910insG
NM_001407943.1:c.3906_3907insG
NM_001407944.1:c.3909_3910insG
NM_001407945.1:c.3909_3910insG
NM_001407946.1:c.3717_3718insG
NM_001407947.1:c.3717_3718insG
NM_001407948.1:c.3717_3718insG
NM_001407949.1:c.3717_3718insG
NM_001407950.1:c.3717_3718insG
NM_001407951.1:c.3717_3718insG
NM_001407952.1:c.3717_3718insG
NM_001407953.1:c.3717_3718insG
NM_001407954.1:c.3714_3715insG
NM_001407955.1:c.3714_3715insG
NM_001407956.1:c.3714_3715insG
NM_001407957.1:c.3717_3718insG
NM_001407958.1:c.3714_3715insG
NM_001407959.1:c.3669_3670insG
NM_001407960.1:c.3669_3670insG
NM_001407962.1:c.3666_3667insG
NM_001407963.1:c.3669_3670insG
NM_001407964.1:c.3906_3907insG
NM_001407965.1:c.3546_3547insG
NM_001407966.1:c.3162_3163insG
NM_001407967.1:c.3162_3163insG
NM_001407968.1:c.1446_1447insG
NM_001407969.1:c.1446_1447insG
NM_001407970.1:c.788-449_788-448insG
NM_001407971.1:c.788-449_788-448insG
NM_001407972.1:c.785-449_785-448insG
NM_001407973.1:c.788-449_788-448insG
NM_001407974.1:c.788-449_788-448insG
NM_001407975.1:c.788-449_788-448insG
NM_001407976.1:c.788-449_788-448insG
NM_001407977.1:c.788-449_788-448insG
NM_001407978.1:c.788-449_788-448insG
NM_001407979.1:c.788-449_788-448insG
NM_001407980.1:c.788-449_788-448insG
NM_001407981.1:c.788-449_788-448insG
NM_001407982.1:c.788-449_788-448insG
NM_001407983.1:c.788-449_788-448insG
NM_001407984.1:c.785-449_785-448insG
NM_001407985.1:c.785-449_785-448insG
NM_001407986.1:c.785-449_785-448insG
NM_001407990.1:c.788-449_788-448insG
NM_001407991.1:c.785-449_785-448insG
NM_001407992.1:c.785-449_785-448insG
NM_001407993.1:c.788-449_788-448insG
NM_001408392.1:c.785-449_785-448insG
NM_001408396.1:c.785-449_785-448insG
NM_001408397.1:c.785-449_785-448insG
NM_001408398.1:c.785-449_785-448insG
NM_001408399.1:c.785-449_785-448insG
NM_001408400.1:c.785-449_785-448insG
NM_001408401.1:c.785-449_785-448insG
NM_001408402.1:c.785-449_785-448insG
NM_001408403.1:c.788-449_788-448insG
NM_001408404.1:c.788-449_788-448insG
NM_001408406.1:c.791-458_791-457insG
NM_001408407.1:c.785-449_785-448insG
NM_001408408.1:c.779-449_779-448insG
NM_001408409.1:c.710-449_710-448insG
NM_001408410.1:c.647-449_647-448insG
NM_001408411.1:c.710-449_710-448insG
NM_001408412.1:c.710-449_710-448insG
NM_001408413.1:c.707-449_707-448insG
NM_001408414.1:c.710-449_710-448insG
NM_001408415.1:c.710-449_710-448insG
NM_001408416.1:c.707-449_707-448insG
NM_001408418.1:c.671-449_671-448insG
NM_001408419.1:c.671-449_671-448insG
NM_001408420.1:c.671-449_671-448insG
NM_001408421.1:c.668-449_668-448insG
NM_001408422.1:c.671-449_671-448insG
NM_001408423.1:c.671-449_671-448insG
NM_001408424.1:c.668-449_668-448insG
NM_001408425.1:c.665-449_665-448insG
NM_001408426.1:c.665-449_665-448insG
NM_001408427.1:c.665-449_665-448insG
NM_001408428.1:c.665-449_665-448insG
NM_001408429.1:c.665-449_665-448insG
NM_001408430.1:c.665-449_665-448insG
NM_001408431.1:c.668-449_668-448insG
NM_001408432.1:c.662-449_662-448insG
NM_001408433.1:c.662-449_662-448insG
NM_001408434.1:c.662-449_662-448insG
NM_001408435.1:c.662-449_662-448insG
NM_001408436.1:c.665-449_665-448insG
NM_001408437.1:c.665-449_665-448insG
NM_001408438.1:c.665-449_665-448insG
NM_001408439.1:c.665-449_665-448insG
NM_001408440.1:c.665-449_665-448insG
NM_001408441.1:c.665-449_665-448insG
NM_001408442.1:c.665-449_665-448insG
NM_001408443.1:c.665-449_665-448insG
NM_001408444.1:c.665-449_665-448insG
NM_001408445.1:c.662-449_662-448insG
NM_001408446.1:c.662-449_662-448insG
NM_001408447.1:c.662-449_662-448insG
NM_001408448.1:c.662-449_662-448insG
NM_001408450.1:c.662-449_662-448insG
NM_001408451.1:c.653-449_653-448insG
NM_001408452.1:c.647-449_647-448insG
NM_001408453.1:c.647-449_647-448insG
NM_001408454.1:c.647-449_647-448insG
NM_001408455.1:c.647-449_647-448insG
NM_001408456.1:c.647-449_647-448insG
NM_001408457.1:c.647-449_647-448insG
NM_001408458.1:c.647-449_647-448insG
NM_001408459.1:c.647-449_647-448insG
NM_001408460.1:c.647-449_647-448insG
NM_001408461.1:c.647-449_647-448insG
NM_001408462.1:c.644-449_644-448insG
NM_001408463.1:c.644-449_644-448insG
NM_001408464.1:c.644-449_644-448insG
NM_001408465.1:c.644-449_644-448insG
NM_001408466.1:c.647-449_647-448insG
NM_001408467.1:c.647-449_647-448insG
NM_001408468.1:c.644-449_644-448insG
NM_001408469.1:c.647-449_647-448insG
NM_001408470.1:c.644-449_644-448insG
NM_001408472.1:c.788-449_788-448insG
NM_001408473.1:c.785-449_785-448insG
NM_001408474.1:c.587-449_587-448insG
NM_001408475.1:c.584-449_584-448insG
NM_001408476.1:c.587-449_587-448insG
NM_001408478.1:c.578-449_578-448insG
NM_001408479.1:c.578-449_578-448insG
NM_001408480.1:c.578-449_578-448insG
NM_001408481.1:c.578-449_578-448insG
NM_001408482.1:c.578-449_578-448insG
NM_001408483.1:c.578-449_578-448insG
NM_001408484.1:c.578-449_578-448insG
NM_001408485.1:c.578-449_578-448insG
NM_001408489.1:c.578-449_578-448insG
NM_001408490.1:c.575-449_575-448insG
NM_001408491.1:c.575-449_575-448insG
NM_001408492.1:c.578-449_578-448insG
NM_001408493.1:c.575-449_575-448insG
NM_001408494.1:c.548-449_548-448insG
NM_001408495.1:c.545-449_545-448insG
NM_001408496.1:c.524-449_524-448insG
NM_001408497.1:c.524-449_524-448insG
NM_001408498.1:c.524-449_524-448insG
NM_001408499.1:c.524-449_524-448insG
NM_001408500.1:c.524-449_524-448insG
NM_001408501.1:c.524-449_524-448insG
NM_001408502.1:c.455-449_455-448insG
NM_001408503.1:c.521-449_521-448insG
NM_001408504.1:c.521-449_521-448insG
NM_001408505.1:c.521-449_521-448insG
NM_001408506.1:c.461-449_461-448insG
NM_001408507.1:c.461-449_461-448insG
NM_001408508.1:c.452-449_452-448insG
NM_001408509.1:c.452-449_452-448insG
NM_001408510.1:c.407-449_407-448insG
NM_001408511.1:c.404-449_404-448insG
NM_001408512.1:c.284-449_284-448insG
NM_001408513.1:c.578-449_578-448insG
NM_001408514.1:c.578-449_578-448insG
NM_007294.4:c.4050_4051insGMANE SELECT
NM_007297.4:c.3909_3910insG
NM_007298.4:c.788-449_788-448insG
NM_007299.4:c.788-449_788-448insG
NM_007300.4:c.4050_4051insG
NP_001394500.1:p.Leu1280fs
NP_001394510.1:p.Leu1351fs
NP_001394511.1:p.Leu1351fs
NP_001394512.1:p.Leu1351fs
NP_001394514.1:p.Leu1351fs
NP_001394516.1:p.Leu1350fs
NP_001394519.1:p.Leu1350fs
NP_001394520.1:p.Leu1350fs
NP_001394522.1:p.Leu1351fs
NP_001394523.1:p.Leu1351fs
NP_001394525.1:p.Leu1351fs
NP_001394526.1:p.Leu1351fs
NP_001394527.1:p.Leu1351fs
NP_001394531.1:p.Leu1351fs
NP_001394532.1:p.Leu1351fs
NP_001394534.1:p.Leu1351fs
NP_001394539.1:p.Leu1350fs
NP_001394540.1:p.Leu1350fs
NP_001394541.1:p.Leu1350fs
NP_001394542.1:p.Leu1350fs
NP_001394543.1:p.Leu1350fs
NP_001394544.1:p.Leu1350fs
NP_001394545.1:p.Leu1351fs
NP_001394546.1:p.Leu1351fs
NP_001394547.1:p.Leu1351fs
NP_001394548.1:p.Leu1351fs
NP_001394549.1:p.Leu1351fs
NP_001394550.1:p.Leu1351fs
NP_001394551.1:p.Leu1351fs
NP_001394552.1:p.Leu1351fs
NP_001394553.1:p.Leu1351fs
NP_001394554.1:p.Leu1351fs
NP_001394555.1:p.Leu1351fs
NP_001394556.1:p.Leu1350fs
NP_001394557.1:p.Leu1350fs
NP_001394558.1:p.Leu1350fs
NP_001394559.1:p.Leu1350fs
NP_001394560.1:p.Leu1350fs
NP_001394561.1:p.Leu1350fs
NP_001394562.1:p.Leu1350fs
NP_001394563.1:p.Leu1350fs
NP_001394564.1:p.Leu1350fs
NP_001394565.1:p.Leu1350fs
NP_001394566.1:p.Leu1350fs
NP_001394567.1:p.Leu1350fs
NP_001394568.1:p.Leu1351fs
NP_001394569.1:p.Leu1351fs
NP_001394570.1:p.Leu1351fs
NP_001394571.1:p.Leu1351fs
NP_001394573.1:p.Leu1350fs
NP_001394574.1:p.Leu1350fs
NP_001394575.1:p.Leu1348fs
NP_001394576.1:p.Leu1348fs
NP_001394577.1:p.Leu1310fs
NP_001394578.1:p.Leu1309fs
NP_001394581.1:p.Leu1351fs
NP_001394582.1:p.Leu1325fs
NP_001394583.1:p.Leu1325fs
NP_001394584.1:p.Leu1325fs
NP_001394585.1:p.Leu1325fs
NP_001394586.1:p.Leu1325fs
NP_001394587.1:p.Leu1325fs
NP_001394588.1:p.Leu1324fs
NP_001394589.1:p.Leu1324fs
NP_001394590.1:p.Leu1324fs
NP_001394591.1:p.Leu1324fs
NP_001394592.1:p.Leu1325fs
NP_001394593.1:p.Leu1310fs
NP_001394594.1:p.Leu1310fs
NP_001394595.1:p.Leu1310fs
NP_001394596.1:p.Leu1310fs
NP_001394597.1:p.Leu1310fs
NP_001394598.1:p.Leu1310fs
NP_001394599.1:p.Leu1309fs
NP_001394600.1:p.Leu1309fs
NP_001394601.1:p.Leu1309fs
NP_001394602.1:p.Leu1309fs
NP_001394603.1:p.Leu1310fs
NP_001394604.1:p.Leu1310fs
NP_001394605.1:p.Leu1310fs
NP_001394606.1:p.Leu1310fs
NP_001394607.1:p.Leu1310fs
NP_001394608.1:p.Leu1310fs
NP_001394609.1:p.Leu1310fs
NP_001394610.1:p.Leu1310fs
NP_001394611.1:p.Leu1310fs
NP_001394612.1:p.Leu1310fs
NP_001394613.1:p.Leu1351fs
NP_001394614.1:p.Leu1309fs
NP_001394615.1:p.Leu1309fs
NP_001394616.1:p.Leu1309fs
NP_001394617.1:p.Leu1309fs
NP_001394618.1:p.Leu1309fs
NP_001394619.1:p.Leu1309fs
NP_001394620.1:p.Leu1309fs
NP_001394621.1:p.Leu1304fs
NP_001394623.1:p.Leu1304fs
NP_001394624.1:p.Leu1304fs
NP_001394625.1:p.Leu1304fs
NP_001394626.1:p.Leu1304fs
NP_001394627.1:p.Leu1304fs
NP_001394653.1:p.Leu1304fs
NP_001394654.1:p.Leu1304fs
NP_001394655.1:p.Leu1304fs
NP_001394656.1:p.Leu1304fs
NP_001394657.1:p.Leu1304fs
NP_001394658.1:p.Leu1304fs
NP_001394659.1:p.Leu1304fs
NP_001394660.1:p.Leu1304fs
NP_001394661.1:p.Leu1304fs
NP_001394662.1:p.Leu1304fs
NP_001394663.1:p.Leu1304fs
NP_001394664.1:p.Leu1304fs
NP_001394665.1:p.Leu1304fs
NP_001394666.1:p.Leu1304fs
NP_001394667.1:p.Leu1304fs
NP_001394668.1:p.Leu1304fs
NP_001394669.1:p.Leu1303fs
NP_001394670.1:p.Leu1303fs
NP_001394671.1:p.Leu1303fs
NP_001394672.1:p.Leu1303fs
NP_001394673.1:p.Leu1303fs
NP_001394674.1:p.Leu1303fs
NP_001394675.1:p.Leu1303fs
NP_001394676.1:p.Leu1303fs
NP_001394677.1:p.Leu1303fs
NP_001394678.1:p.Leu1303fs
NP_001394679.1:p.Leu1304fs
NP_001394680.1:p.Leu1304fs
NP_001394681.1:p.Leu1304fs
NP_001394767.1:p.Leu1303fs
NP_001394768.1:p.Leu1303fs
NP_001394770.1:p.Leu1303fs
NP_001394771.1:p.Leu1303fs
NP_001394772.1:p.Leu1303fs
NP_001394773.1:p.Leu1303fs
NP_001394774.1:p.Leu1303fs
NP_001394775.1:p.Leu1303fs
NP_001394776.1:p.Leu1303fs
NP_001394777.1:p.Leu1303fs
NP_001394778.1:p.Leu1303fs
NP_001394779.1:p.Leu1304fs
NP_001394780.1:p.Leu1304fs
NP_001394781.1:p.Leu1304fs
NP_001394782.1:p.Leu1280fs
NP_001394783.1:p.Leu1351fs
NP_001394787.1:p.Leu1351fs
NP_001394788.1:p.Leu1351fs
NP_001394789.1:p.Leu1350fs
NP_001394790.1:p.Leu1350fs
NP_001394791.1:p.Leu1284fs
NP_001394792.1:p.Leu1310fs
NP_001394803.1:p.Leu1283fs
NP_001394804.1:p.Leu1283fs
NP_001394808.1:p.Leu1281fs
NP_001394810.1:p.Leu1281fs
NP_001394811.1:p.Leu1281fs
NP_001394813.1:p.Leu1281fs
NP_001394814.1:p.Leu1281fs
NP_001394815.1:p.Leu1281fs
NP_001394816.1:p.Leu1281fs
NP_001394818.1:p.Leu1281fs
NP_001394823.1:p.Leu1280fs
NP_001394824.1:p.Leu1280fs
NP_001394825.1:p.Leu1280fs
NP_001394826.1:p.Leu1280fs
NP_001394827.1:p.Leu1280fs
NP_001394828.1:p.Leu1280fs
NP_001394829.1:p.Leu1281fs
NP_001394831.1:p.Leu1281fs
NP_001394833.1:p.Leu1281fs
NP_001394835.1:p.Leu1281fs
NP_001394836.1:p.Leu1281fs
NP_001394837.1:p.Leu1281fs
NP_001394838.1:p.Leu1281fs
NP_001394839.1:p.Leu1281fs
NP_001394844.1:p.Leu1280fs
NP_001394845.1:p.Leu1280fs
NP_001394846.1:p.Leu1280fs
NP_001394847.1:p.Leu1280fs
NP_001394848.1:p.Leu1310fs
NP_001394849.1:p.Leu1263fs
NP_001394850.1:p.Leu1263fs
NP_001394851.1:p.Leu1263fs
NP_001394852.1:p.Leu1263fs
NP_001394853.1:p.Leu1263fs
NP_001394854.1:p.Leu1263fs
NP_001394855.1:p.Leu1263fs
NP_001394856.1:p.Leu1263fs
NP_001394857.1:p.Leu1263fs
NP_001394858.1:p.Leu1263fs
NP_001394859.1:p.Leu1262fs
NP_001394860.1:p.Leu1262fs
NP_001394861.1:p.Leu1262fs
NP_001394862.1:p.Leu1263fs
NP_001394863.1:p.Leu1262fs
NP_001394864.1:p.Leu1263fs
NP_001394865.1:p.Leu1262fs
NP_001394866.1:p.Leu1310fs
NP_001394867.1:p.Leu1310fs
NP_001394868.1:p.Leu1310fs
NP_001394869.1:p.Leu1309fs
NP_001394870.1:p.Leu1309fs
NP_001394871.1:p.Leu1304fs
NP_001394872.1:p.Leu1303fs
NP_001394873.1:p.Leu1304fs
NP_001394874.1:p.Leu1304fs
NP_001394875.1:p.Leu1240fs
NP_001394876.1:p.Leu1240fs
NP_001394877.1:p.Leu1240fs
NP_001394878.1:p.Leu1240fs
NP_001394879.1:p.Leu1240fs
NP_001394880.1:p.Leu1240fs
NP_001394881.1:p.Leu1240fs
NP_001394882.1:p.Leu1240fs
NP_001394883.1:p.Leu1239fs
NP_001394884.1:p.Leu1239fs
NP_001394885.1:p.Leu1239fs
NP_001394886.1:p.Leu1240fs
NP_001394887.1:p.Leu1239fs
NP_001394888.1:p.Leu1224fs
NP_001394889.1:p.Leu1224fs
NP_001394891.1:p.Leu1223fs
NP_001394892.1:p.Leu1224fs
NP_001394893.1:p.Leu1303fs
NP_001394894.1:p.Leu1183fs
NP_001394895.1:p.Leu1055fs
NP_001394896.1:p.Leu1055fs
NP_001394897.1:p.Leu483fs
NP_001394898.1:p.Leu483fs
NP_009225.1:p.Leu1351Valfs
NP_009225.1:p.Leu1351fs
NP_009228.2:p.Leu1304fs
NP_009231.2:p.Leu1351fs
LRG_292t1:c.4050_4051insG
LRG_292:g.126503_126504insG
LRG_292p1:p.Leu1351Valfs
NC_000017.10:g.41243497_41243498insC
NM_007294.3:c.4050_4051insG
NR_027676.1:n.4186_4187insG
U14680.1:n.4169_4170insG
p.Leu1351fs

Protein change:

L1055fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4169&base_change=ins G; dbSNP: rs483353092

NCBI 1000 Genomes Browser:

rs483353092

Molecular consequence:

NM_001407571.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.4041_4042insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.4041_4042insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3972_3973insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3972_3973insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3972_3973insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3972_3973insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3972_3973insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3972_3973insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3969_3970insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3969_3970insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3969_3970insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3969_3970insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3972_3973insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.4047_4048insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3849_3850insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3846_3847insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3846_3847insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3840_3841insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3837_3838insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3783_3784insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3783_3784insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3783_3784insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3783_3784insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3786_3787insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3783_3784insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3927_3928insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3924_3925insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.3717_3718insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.3717_3718insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.3717_3718insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.3717_3718insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.3717_3718insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.3717_3718insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.3717_3718insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.3717_3718insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.3714_3715insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.3714_3715insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.3714_3715insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.3717_3718insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.3714_3715insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.3669_3670insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.3669_3670insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.3666_3667insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.3669_3670insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3906_3907insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3546_3547insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.3162_3163insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.3162_3163insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1446_1447insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1446_1447insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3909_3910insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.4050_4051insG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-458_791-457insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-449_779-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-449_710-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-449_710-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-449_710-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-449_707-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-449_710-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-449_710-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-449_707-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-449_671-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-449_671-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-449_671-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-449_668-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-449_671-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-449_671-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-449_668-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-449_668-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-449_662-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-449_662-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-449_662-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-449_662-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-449_665-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-449_662-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-449_662-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-449_662-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-449_662-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-449_662-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-449_653-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-449_644-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-449_644-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-449_644-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-449_644-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-449_644-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-449_647-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-449_644-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-449_785-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-449_587-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-449_584-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-449_587-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-449_575-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-449_575-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-449_575-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-449_548-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-449_545-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-449_524-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-449_524-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-449_524-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-449_524-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-449_524-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-449_524-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-449_455-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-449_521-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-449_521-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-449_521-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-449_461-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-449_461-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-449_452-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-449_452-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-449_407-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-449_404-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-449_284-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-449_578-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-449_788-448insG - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Passeriformes tRNA-Phe (trnF), 12S ribosomal RNA, tRNA-Val (trnV), 16S ribosomal...
Passeriformes tRNA-Phe (trnF), 12S ribosomal RNA, tRNA-Val (trnV), 16S ribosomal RNA, and tRNA-Leu (trnL) genes, complete sequence; NADH dehydrogenase subunit 1 (ND1) gene, complete cds; tRNA-Ile (trnI), tRNA-Gln (trnQ), and tRNA-Met (trnM) genes, complete sequence; NADH dehydrogenase subunit 2 (ND2) gene, complete cds; tRNA-Trp (trnW), tRNA-Ala (trnA), tRNA-Asn (trnN), tRNA-Cys (trnC), and tRNA-Tyr (trnY) genes, complete sequence; cytochrome c oxidase subunit I (COX1) gene, complete cds; tRNA-Ser (trnS) and tRNA-Asp (trnD) genes, complete sequence; cytochrome c oxidase subunit II (COX2) gene, complete cds; tRNA-Lys (trnK) gene, complete sequence; ATP synthase F0 subunit 8 (ATP8), ATP synthase F0 subunit 6 (ATP6), and cytochrome c oxidase subunit III (COX3) genes, complete cds; tRNA-Gly (trnG) gene, complete sequence; NADH dehydrogenase subunit 3 (ND3) gene, complete cds; tRNA-Arg (trnR) gene, complete sequence; NADH dehydrogenase subunit 4L (ND4L) and NADH dehydrogenase subunit 4 (ND4) genes, complete cds; tRNA-His (trnH), tRNA-Ser (trnS), and tRNA-Leu (trnL) genes, complete sequence; NADH dehydrogenase subunit 5 (ND5) and cytochrome b (CYTB) genes, complete cds; tRNA-Thr (trnT) and tRNA-Pro (trnP) genes, complete sequence; NADH dehydrogenase subunit 6 (ND6) gene, complete cds; and tRNA-Glu (trnE) gene, complete sequence; mitochondrial.
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Passeriformes ornithine decarboxylase (ODC) gene, exons 6 through 8 and partial ...
Passeriformes ornithine decarboxylase (ODC) gene, exons 6 through 8 and partial cds.
PopSet: 295315354

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Passeriformes lactate dehydrogenase (LDH) gene, partial cds.
Passeriformes lactate dehydrogenase (LDH) gene, partial cds.
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144947	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Feb 20, 2013)	somatic	clinical testing
SCV000323707	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Oct 18, 2016)	germline	curation	Citation Link,
SCV000325823	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000144947

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Uncertain significance
(Feb 20, 2013)

somatic

clinical testing

SCV000323707

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Oct 18, 2016)

germline

curation

Citation Link,

SCV000325823

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge

criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)

Pathogenic
(Oct 2, 2015)

germline

clinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	1	not provided	not provided	not provided	clinical testing, curation
Chinese	somatic	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144947.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Chinese	1	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	somatic	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323707.2

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325823.4

#	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	unknown	not provided	not provided	not provided		not provided	not provided	1	not provided

Last Updated: Oct 8, 2024

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