Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3247_3251del (p.Ala1082_Met1083insTer)
Germline
Reviewed by expert panel
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Reviewed by expert panel. Learn more about how ClinVar calculates review status.
Pathogenic
for
Breast-ovarian cancer, familial, susceptibility to, 1
Classification is based on the expert panel submission
Dec 2017 by
Evidence-based Network for the Interpretation of Germline M…
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The classification is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3247_3251del (p.Ala1082_Met1083insTer)
Variation ID: 431241 Accession: VCV000431241.6
- Type and length
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Microsatellite, 5 bp
- Location
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Cytogenetic: 17q21.31 17: 43092280-43092284 (GRCh38) [ NCBI UCSC ] 17: 41244297-41244301 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 7, 2017 Apr 28, 2025 Dec 15, 2017 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3247_3251del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ala1082_Met1083insTer nonsense NM_001407571.1:c.3034_3038del NP_001394500.1:p.Ala1011_Met1012insTer nonsense NM_001407581.1:c.3247_3251del NP_001394510.1:p.Ala1082_Met1083insTer nonsense NM_001407582.1:c.3247_3251del NP_001394511.1:p.Ala1082_Met1083insTer nonsense NM_001407583.1:c.3247_3251del NP_001394512.1:p.Ala1082_Met1083insTer nonsense NM_001407585.1:c.3247_3251del NP_001394514.1:p.Ala1082_Met1083insTer nonsense NM_001407587.1:c.3244_3248del NP_001394516.1:p.Ala1081_Met1082insTer nonsense NM_001407590.1:c.3244_3248del NP_001394519.1:p.Ala1081_Met1082insTer nonsense NM_001407591.1:c.3244_3248del NP_001394520.1:p.Ala1081_Met1082insTer nonsense NM_001407593.1:c.3247_3251del NP_001394522.1:p.Ala1082_Met1083insTer nonsense NM_001407594.1:c.3247_3251del NP_001394523.1:p.Ala1082_Met1083insTer nonsense NM_001407596.1:c.3247_3251del NP_001394525.1:p.Ala1082_Met1083insTer nonsense NM_001407597.1:c.3247_3251del NP_001394526.1:p.Ala1082_Met1083insTer nonsense NM_001407598.1:c.3247_3251del NP_001394527.1:p.Ala1082_Met1083insTer nonsense NM_001407602.1:c.3247_3251del NP_001394531.1:p.Ala1082_Met1083insTer nonsense NM_001407603.1:c.3247_3251del NP_001394532.1:p.Ala1082_Met1083insTer nonsense NM_001407605.1:c.3247_3251del NP_001394534.1:p.Ala1082_Met1083insTer nonsense NM_001407610.1:c.3244_3248del NP_001394539.1:p.Ala1081_Met1082insTer nonsense NM_001407611.1:c.3244_3248del NP_001394540.1:p.Ala1081_Met1082insTer nonsense NM_001407612.1:c.3244_3248del NP_001394541.1:p.Ala1081_Met1082insTer nonsense NM_001407613.1:c.3244_3248del NP_001394542.1:p.Ala1081_Met1082insTer nonsense NM_001407614.1:c.3244_3248del NP_001394543.1:p.Ala1081_Met1082insTer nonsense NM_001407615.1:c.3244_3248del NP_001394544.1:p.Ala1081_Met1082insTer nonsense NM_001407616.1:c.3247_3251del NP_001394545.1:p.Ala1082_Met1083insTer nonsense NM_001407617.1:c.3247_3251del NP_001394546.1:p.Ala1082_Met1083insTer nonsense NM_001407618.1:c.3247_3251del NP_001394547.1:p.Ala1082_Met1083insTer nonsense NM_001407619.1:c.3247_3251del NP_001394548.1:p.Ala1082_Met1083insTer nonsense NM_001407620.1:c.3247_3251del NP_001394549.1:p.Ala1082_Met1083insTer nonsense NM_001407621.1:c.3247_3251del NP_001394550.1:p.Ala1082_Met1083insTer nonsense NM_001407622.1:c.3247_3251del NP_001394551.1:p.Ala1082_Met1083insTer nonsense NM_001407623.1:c.3247_3251del NP_001394552.1:p.Ala1082_Met1083insTer nonsense NM_001407624.1:c.3247_3251del NP_001394553.1:p.Ala1082_Met1083insTer nonsense NM_001407625.1:c.3247_3251del NP_001394554.1:p.Ala1082_Met1083insTer nonsense NM_001407626.1:c.3247_3251del NP_001394555.1:p.Ala1082_Met1083insTer nonsense NM_001407627.1:c.3244_3248del NP_001394556.1:p.Ala1081_Met1082insTer nonsense NM_001407628.1:c.3244_3248del NP_001394557.1:p.Ala1081_Met1082insTer nonsense NM_001407629.1:c.3244_3248del NP_001394558.1:p.Ala1081_Met1082insTer nonsense NM_001407630.1:c.3244_3248del NP_001394559.1:p.Ala1081_Met1082insTer nonsense NM_001407631.1:c.3244_3248del NP_001394560.1:p.Ala1081_Met1082insTer nonsense NM_001407632.1:c.3244_3248del NP_001394561.1:p.Ala1081_Met1082insTer nonsense NM_001407633.1:c.3244_3248del NP_001394562.1:p.Ala1081_Met1082insTer nonsense NM_001407634.1:c.3244_3248del NP_001394563.1:p.Ala1081_Met1082insTer nonsense NM_001407635.1:c.3244_3248del NP_001394564.1:p.Ala1081_Met1082insTer nonsense NM_001407636.1:c.3244_3248del NP_001394565.1:p.Ala1081_Met1082insTer nonsense NM_001407637.1:c.3244_3248del NP_001394566.1:p.Ala1081_Met1082insTer nonsense NM_001407638.1:c.3244_3248del NP_001394567.1:p.Ala1081_Met1082insTer nonsense NM_001407639.1:c.3247_3251del NP_001394568.1:p.Ala1082_Met1083insTer nonsense NM_001407640.1:c.3247_3251del NP_001394569.1:p.Ala1082_Met1083insTer nonsense NM_001407641.1:c.3247_3251del NP_001394570.1:p.Ala1082_Met1083insTer nonsense NM_001407642.1:c.3247_3251del NP_001394571.1:p.Ala1082_Met1083insTer nonsense NM_001407644.1:c.3244_3248del NP_001394573.1:p.Ala1081_Met1082insTer nonsense NM_001407645.1:c.3244_3248del NP_001394574.1:p.Ala1081_Met1082insTer nonsense NM_001407646.1:c.3238_3242del NP_001394575.1:p.Ala1079_Met1080insTer nonsense NM_001407647.1:c.3238_3242del NP_001394576.1:p.Ala1079_Met1080insTer nonsense NM_001407648.1:c.3124_3128del NP_001394577.1:p.Ala1041_Met1042insTer nonsense NM_001407649.1:c.3121_3125del NP_001394578.1:p.Ala1040_Met1041insTer nonsense NM_001407652.1:c.3247_3251del NP_001394581.1:p.Ala1082_Met1083insTer nonsense NM_001407653.1:c.3169_3173del NP_001394582.1:p.Ala1056_Met1057insTer nonsense NM_001407654.1:c.3169_3173del NP_001394583.1:p.Ala1056_Met1057insTer nonsense NM_001407655.1:c.3169_3173del NP_001394584.1:p.Ala1056_Met1057insTer nonsense NM_001407656.1:c.3169_3173del NP_001394585.1:p.Ala1056_Met1057insTer nonsense NM_001407657.1:c.3169_3173del NP_001394586.1:p.Ala1056_Met1057insTer nonsense NM_001407658.1:c.3169_3173del NP_001394587.1:p.Ala1056_Met1057insTer nonsense NM_001407659.1:c.3166_3170del NP_001394588.1:p.Ala1055_Met1056insTer nonsense NM_001407660.1:c.3166_3170del NP_001394589.1:p.Ala1055_Met1056insTer nonsense NM_001407661.1:c.3166_3170del NP_001394590.1:p.Ala1055_Met1056insTer nonsense NM_001407662.1:c.3166_3170del NP_001394591.1:p.Ala1055_Met1056insTer nonsense NM_001407663.1:c.3169_3173del NP_001394592.1:p.Ala1056_Met1057insTer nonsense NM_001407664.1:c.3124_3128del NP_001394593.1:p.Ala1041_Met1042insTer nonsense NM_001407665.1:c.3124_3128del NP_001394594.1:p.Ala1041_Met1042insTer nonsense NM_001407666.1:c.3124_3128del NP_001394595.1:p.Ala1041_Met1042insTer nonsense NM_001407667.1:c.3124_3128del NP_001394596.1:p.Ala1041_Met1042insTer nonsense NM_001407668.1:c.3124_3128del NP_001394597.1:p.Ala1041_Met1042insTer nonsense NM_001407669.1:c.3124_3128del NP_001394598.1:p.Ala1041_Met1042insTer nonsense NM_001407670.1:c.3121_3125del NP_001394599.1:p.Ala1040_Met1041insTer nonsense NM_001407671.1:c.3121_3125del NP_001394600.1:p.Ala1040_Met1041insTer nonsense NM_001407672.1:c.3121_3125del NP_001394601.1:p.Ala1040_Met1041insTer nonsense NM_001407673.1:c.3121_3125del NP_001394602.1:p.Ala1040_Met1041insTer nonsense NM_001407674.1:c.3124_3128del NP_001394603.1:p.Ala1041_Met1042insTer nonsense NM_001407675.1:c.3124_3128del NP_001394604.1:p.Ala1041_Met1042insTer nonsense NM_001407676.1:c.3124_3128del NP_001394605.1:p.Ala1041_Met1042insTer nonsense NM_001407677.1:c.3124_3128del NP_001394606.1:p.Ala1041_Met1042insTer nonsense NM_001407678.1:c.3124_3128del NP_001394607.1:p.Ala1041_Met1042insTer nonsense NM_001407679.1:c.3124_3128del NP_001394608.1:p.Ala1041_Met1042insTer nonsense NM_001407680.1:c.3124_3128del NP_001394609.1:p.Ala1041_Met1042insTer nonsense NM_001407681.1:c.3124_3128del NP_001394610.1:p.Ala1041_Met1042insTer nonsense NM_001407682.1:c.3124_3128del NP_001394611.1:p.Ala1041_Met1042insTer nonsense NM_001407683.1:c.3124_3128del NP_001394612.1:p.Ala1041_Met1042insTer nonsense NM_001407684.1:c.3247_3251del NP_001394613.1:p.Ala1082_Met1083insTer nonsense NM_001407685.1:c.3121_3125del NP_001394614.1:p.Ala1040_Met1041insTer nonsense NM_001407686.1:c.3121_3125del NP_001394615.1:p.Ala1040_Met1041insTer nonsense NM_001407687.1:c.3121_3125del NP_001394616.1:p.Ala1040_Met1041insTer nonsense NM_001407688.1:c.3121_3125del NP_001394617.1:p.Ala1040_Met1041insTer nonsense NM_001407689.1:c.3121_3125del NP_001394618.1:p.Ala1040_Met1041insTer nonsense NM_001407690.1:c.3121_3125del NP_001394619.1:p.Ala1040_Met1041insTer nonsense NM_001407691.1:c.3121_3125del NP_001394620.1:p.Ala1040_Met1041insTer nonsense NM_001407692.1:c.3106_3110del NP_001394621.1:p.Ala1035_Met1036insTer nonsense NM_001407694.1:c.3106_3110del NP_001394623.1:p.Ala1035_Met1036insTer nonsense NM_001407695.1:c.3106_3110del NP_001394624.1:p.Ala1035_Met1036insTer nonsense NM_001407696.1:c.3106_3110del NP_001394625.1:p.Ala1035_Met1036insTer nonsense NM_001407697.1:c.3106_3110del NP_001394626.1:p.Ala1035_Met1036insTer nonsense NM_001407698.1:c.3106_3110del NP_001394627.1:p.Ala1035_Met1036insTer nonsense NM_001407724.1:c.3106_3110del NP_001394653.1:p.Ala1035_Met1036insTer nonsense NM_001407725.1:c.3106_3110del NP_001394654.1:p.Ala1035_Met1036insTer nonsense NM_001407726.1:c.3106_3110del NP_001394655.1:p.Ala1035_Met1036insTer nonsense NM_001407727.1:c.3106_3110del NP_001394656.1:p.Ala1035_Met1036insTer nonsense NM_001407728.1:c.3106_3110del NP_001394657.1:p.Ala1035_Met1036insTer nonsense NM_001407729.1:c.3106_3110del NP_001394658.1:p.Ala1035_Met1036insTer nonsense NM_001407730.1:c.3106_3110del NP_001394659.1:p.Ala1035_Met1036insTer nonsense NM_001407731.1:c.3106_3110del NP_001394660.1:p.Ala1035_Met1036insTer nonsense NM_001407732.1:c.3106_3110del NP_001394661.1:p.Ala1035_Met1036insTer nonsense NM_001407733.1:c.3106_3110del NP_001394662.1:p.Ala1035_Met1036insTer nonsense NM_001407734.1:c.3106_3110del NP_001394663.1:p.Ala1035_Met1036insTer nonsense NM_001407735.1:c.3106_3110del NP_001394664.1:p.Ala1035_Met1036insTer nonsense NM_001407736.1:c.3106_3110del NP_001394665.1:p.Ala1035_Met1036insTer nonsense NM_001407737.1:c.3106_3110del NP_001394666.1:p.Ala1035_Met1036insTer nonsense NM_001407738.1:c.3106_3110del NP_001394667.1:p.Ala1035_Met1036insTer nonsense NM_001407739.1:c.3106_3110del NP_001394668.1:p.Ala1035_Met1036insTer nonsense NM_001407740.1:c.3103_3107del NP_001394669.1:p.Ala1034_Met1035insTer nonsense NM_001407741.1:c.3103_3107del NP_001394670.1:p.Ala1034_Met1035insTer nonsense NM_001407742.1:c.3103_3107del NP_001394671.1:p.Ala1034_Met1035insTer nonsense NM_001407743.1:c.3103_3107del NP_001394672.1:p.Ala1034_Met1035insTer nonsense NM_001407744.1:c.3103_3107del NP_001394673.1:p.Ala1034_Met1035insTer nonsense NM_001407745.1:c.3103_3107del NP_001394674.1:p.Ala1034_Met1035insTer nonsense NM_001407746.1:c.3103_3107del NP_001394675.1:p.Ala1034_Met1035insTer nonsense NM_001407747.1:c.3103_3107del NP_001394676.1:p.Ala1034_Met1035insTer nonsense NM_001407748.1:c.3103_3107del NP_001394677.1:p.Ala1034_Met1035insTer nonsense NM_001407749.1:c.3103_3107del NP_001394678.1:p.Ala1034_Met1035insTer nonsense NM_001407750.1:c.3106_3110del NP_001394679.1:p.Ala1035_Met1036insTer nonsense NM_001407751.1:c.3106_3110del NP_001394680.1:p.Ala1035_Met1036insTer nonsense NM_001407752.1:c.3106_3110del NP_001394681.1:p.Ala1035_Met1036insTer nonsense NM_001407838.1:c.3103_3107del NP_001394767.1:p.Ala1034_Met1035insTer nonsense NM_001407839.1:c.3103_3107del NP_001394768.1:p.Ala1034_Met1035insTer nonsense NM_001407841.1:c.3103_3107del NP_001394770.1:p.Ala1034_Met1035insTer nonsense NM_001407842.1:c.3103_3107del NP_001394771.1:p.Ala1034_Met1035insTer nonsense NM_001407843.1:c.3103_3107del NP_001394772.1:p.Ala1034_Met1035insTer nonsense NM_001407844.1:c.3103_3107del NP_001394773.1:p.Ala1034_Met1035insTer nonsense NM_001407845.1:c.3103_3107del NP_001394774.1:p.Ala1034_Met1035insTer nonsense NM_001407846.1:c.3103_3107del NP_001394775.1:p.Ala1034_Met1035insTer nonsense NM_001407847.1:c.3103_3107del NP_001394776.1:p.Ala1034_Met1035insTer nonsense NM_001407848.1:c.3103_3107del NP_001394777.1:p.Ala1034_Met1035insTer nonsense NM_001407849.1:c.3103_3107del NP_001394778.1:p.Ala1034_Met1035insTer nonsense NM_001407850.1:c.3106_3110del NP_001394779.1:p.Ala1035_Met1036insTer nonsense NM_001407851.1:c.3106_3110del NP_001394780.1:p.Ala1035_Met1036insTer nonsense NM_001407852.1:c.3106_3110del NP_001394781.1:p.Ala1035_Met1036insTer nonsense NM_001407853.1:c.3034_3038del NP_001394782.1:p.Ala1011_Met1012insTer nonsense NM_001407854.1:c.3247_3251del NP_001394783.1:p.Ala1082_Met1083insTer nonsense NM_001407858.1:c.3247_3251del NP_001394787.1:p.Ala1082_Met1083insTer nonsense NM_001407859.1:c.3247_3251del NP_001394788.1:p.Ala1082_Met1083insTer nonsense NM_001407860.1:c.3244_3248del NP_001394789.1:p.Ala1081_Met1082insTer nonsense NM_001407861.1:c.3244_3248del NP_001394790.1:p.Ala1081_Met1082insTer nonsense NM_001407862.1:c.3046_3050del NP_001394791.1:p.Ala1015_Met1016insTer nonsense NM_001407863.1:c.3124_3128del NP_001394792.1:p.Ala1041_Met1042insTer nonsense NM_001407874.1:c.3043_3047del NP_001394803.1:p.Ala1014_Met1015insTer nonsense NM_001407875.1:c.3043_3047del NP_001394804.1:p.Ala1014_Met1015insTer nonsense NM_001407879.1:c.3037_3041del NP_001394808.1:p.Ala1012_Met1013insTer nonsense NM_001407881.1:c.3037_3041del NP_001394810.1:p.Ala1012_Met1013insTer nonsense NM_001407882.1:c.3037_3041del NP_001394811.1:p.Ala1012_Met1013insTer nonsense NM_001407884.1:c.3037_3041del NP_001394813.1:p.Ala1012_Met1013insTer nonsense NM_001407885.1:c.3037_3041del NP_001394814.1:p.Ala1012_Met1013insTer nonsense NM_001407886.1:c.3037_3041del NP_001394815.1:p.Ala1012_Met1013insTer nonsense NM_001407887.1:c.3037_3041del NP_001394816.1:p.Ala1012_Met1013insTer nonsense NM_001407889.1:c.3037_3041del NP_001394818.1:p.Ala1012_Met1013insTer nonsense NM_001407894.1:c.3034_3038del NP_001394823.1:p.Ala1011_Met1012insTer nonsense NM_001407895.1:c.3034_3038del NP_001394824.1:p.Ala1011_Met1012insTer nonsense NM_001407896.1:c.3034_3038del NP_001394825.1:p.Ala1011_Met1012insTer nonsense NM_001407897.1:c.3034_3038del NP_001394826.1:p.Ala1011_Met1012insTer nonsense NM_001407898.1:c.3034_3038del NP_001394827.1:p.Ala1011_Met1012insTer nonsense NM_001407899.1:c.3034_3038del NP_001394828.1:p.Ala1011_Met1012insTer nonsense NM_001407900.1:c.3037_3041del NP_001394829.1:p.Ala1012_Met1013insTer nonsense NM_001407902.1:c.3037_3041del NP_001394831.1:p.Ala1012_Met1013insTer nonsense NM_001407904.1:c.3037_3041del NP_001394833.1:p.Ala1012_Met1013insTer nonsense NM_001407906.1:c.3037_3041del NP_001394835.1:p.Ala1012_Met1013insTer nonsense NM_001407907.1:c.3037_3041del NP_001394836.1:p.Ala1012_Met1013insTer nonsense NM_001407908.1:c.3037_3041del NP_001394837.1:p.Ala1012_Met1013insTer nonsense NM_001407909.1:c.3037_3041del NP_001394838.1:p.Ala1012_Met1013insTer nonsense NM_001407910.1:c.3037_3041del NP_001394839.1:p.Ala1012_Met1013insTer nonsense NM_001407915.1:c.3034_3038del NP_001394844.1:p.Ala1011_Met1012insTer nonsense NM_001407916.1:c.3034_3038del NP_001394845.1:p.Ala1011_Met1012insTer nonsense NM_001407917.1:c.3034_3038del NP_001394846.1:p.Ala1011_Met1012insTer nonsense NM_001407918.1:c.3034_3038del NP_001394847.1:p.Ala1011_Met1012insTer nonsense NM_001407919.1:c.3124_3128del NP_001394848.1:p.Ala1041_Met1042insTer nonsense NM_001407920.1:c.2983_2987del NP_001394849.1:p.Ala994_Met995insTer nonsense NM_001407921.1:c.2983_2987del NP_001394850.1:p.Ala994_Met995insTer nonsense NM_001407922.1:c.2983_2987del NP_001394851.1:p.Ala994_Met995insTer nonsense NM_001407923.1:c.2983_2987del NP_001394852.1:p.Ala994_Met995insTer nonsense NM_001407924.1:c.2983_2987del NP_001394853.1:p.Ala994_Met995insTer nonsense NM_001407925.1:c.2983_2987del NP_001394854.1:p.Ala994_Met995insTer nonsense NM_001407926.1:c.2983_2987del NP_001394855.1:p.Ala994_Met995insTer nonsense NM_001407927.1:c.2983_2987del NP_001394856.1:p.Ala994_Met995insTer nonsense NM_001407928.1:c.2983_2987del NP_001394857.1:p.Ala994_Met995insTer nonsense NM_001407929.1:c.2983_2987del NP_001394858.1:p.Ala994_Met995insTer nonsense NM_001407930.1:c.2980_2984del NP_001394859.1:p.Ala993_Met994insTer nonsense NM_001407931.1:c.2980_2984del NP_001394860.1:p.Ala993_Met994insTer nonsense NM_001407932.1:c.2980_2984del NP_001394861.1:p.Ala993_Met994insTer nonsense NM_001407933.1:c.2983_2987del NP_001394862.1:p.Ala994_Met995insTer nonsense NM_001407934.1:c.2980_2984del NP_001394863.1:p.Ala993_Met994insTer nonsense NM_001407935.1:c.2983_2987del NP_001394864.1:p.Ala994_Met995insTer nonsense NM_001407936.1:c.2980_2984del NP_001394865.1:p.Ala993_Met994insTer nonsense NM_001407937.1:c.3124_3128del NP_001394866.1:p.Ala1041_Met1042insTer nonsense NM_001407938.1:c.3124_3128del NP_001394867.1:p.Ala1041_Met1042insTer nonsense NM_001407939.1:c.3124_3128del NP_001394868.1:p.Ala1041_Met1042insTer nonsense NM_001407940.1:c.3121_3125del NP_001394869.1:p.Ala1040_Met1041insTer nonsense NM_001407941.1:c.3121_3125del NP_001394870.1:p.Ala1040_Met1041insTer nonsense NM_001407942.1:c.3106_3110del NP_001394871.1:p.Ala1035_Met1036insTer nonsense NM_001407943.1:c.3103_3107del NP_001394872.1:p.Ala1034_Met1035insTer nonsense NM_001407944.1:c.3106_3110del NP_001394873.1:p.Ala1035_Met1036insTer nonsense NM_001407945.1:c.3106_3110del NP_001394874.1:p.Ala1035_Met1036insTer nonsense NM_001407946.1:c.2914_2918del NP_001394875.1:p.Ala971_Met972insTer nonsense NM_001407947.1:c.2914_2918del NP_001394876.1:p.Ala971_Met972insTer nonsense NM_001407948.1:c.2914_2918del NP_001394877.1:p.Ala971_Met972insTer nonsense NM_001407949.1:c.2914_2918del NP_001394878.1:p.Ala971_Met972insTer nonsense NM_001407950.1:c.2914_2918del NP_001394879.1:p.Ala971_Met972insTer nonsense NM_001407951.1:c.2914_2918del NP_001394880.1:p.Ala971_Met972insTer nonsense NM_001407952.1:c.2914_2918del NP_001394881.1:p.Ala971_Met972insTer nonsense NM_001407953.1:c.2914_2918del NP_001394882.1:p.Ala971_Met972insTer nonsense NM_001407954.1:c.2911_2915del NP_001394883.1:p.Ala970_Met971insTer nonsense NM_001407955.1:c.2911_2915del NP_001394884.1:p.Ala970_Met971insTer nonsense NM_001407956.1:c.2911_2915del NP_001394885.1:p.Ala970_Met971insTer nonsense NM_001407957.1:c.2914_2918del NP_001394886.1:p.Ala971_Met972insTer nonsense NM_001407958.1:c.2911_2915del NP_001394887.1:p.Ala970_Met971insTer nonsense NM_001407959.1:c.2866_2870del NP_001394888.1:p.Ala955_Met956insTer nonsense NM_001407960.1:c.2866_2870del NP_001394889.1:p.Ala955_Met956insTer nonsense NM_001407962.1:c.2863_2867del NP_001394891.1:p.Ala954_Met955insTer nonsense NM_001407963.1:c.2866_2870del NP_001394892.1:p.Ala955_Met956insTer nonsense NM_001407964.1:c.3103_3107del NP_001394893.1:p.Ala1034_Met1035insTer nonsense NM_001407965.1:c.2743_2747del NP_001394894.1:p.Ala914_Met915insTer nonsense NM_001407966.1:c.2359_2363del NP_001394895.1:p.Ala786_Met787insTer nonsense NM_001407967.1:c.2359_2363del NP_001394896.1:p.Ala786_Met787insTer nonsense NM_001407968.1:c.788-145_788-141del intron variant NM_001407969.1:c.788-145_788-141del intron variant NM_001407970.1:c.788-1252_788-1248del intron variant NM_001407971.1:c.788-1252_788-1248del intron variant NM_001407972.1:c.785-1252_785-1248del intron variant NM_001407973.1:c.788-1252_788-1248del intron variant NM_001407974.1:c.788-1252_788-1248del intron variant NM_001407975.1:c.788-1252_788-1248del intron variant NM_001407976.1:c.788-1252_788-1248del intron variant NM_001407977.1:c.788-1252_788-1248del intron variant NM_001407978.1:c.788-1252_788-1248del intron variant NM_001407979.1:c.788-1252_788-1248del intron variant NM_001407980.1:c.788-1252_788-1248del intron variant NM_001407981.1:c.788-1252_788-1248del intron variant NM_001407982.1:c.788-1252_788-1248del intron variant NM_001407983.1:c.788-1252_788-1248del intron variant NM_001407984.1:c.785-1252_785-1248del intron variant NM_001407985.1:c.785-1252_785-1248del intron variant NM_001407986.1:c.785-1252_785-1248del intron variant NM_001407990.1:c.788-1252_788-1248del intron variant NM_001407991.1:c.785-1252_785-1248del intron variant NM_001407992.1:c.785-1252_785-1248del intron variant NM_001407993.1:c.788-1252_788-1248del intron variant NM_001408392.1:c.785-1252_785-1248del intron variant NM_001408396.1:c.785-1252_785-1248del intron variant NM_001408397.1:c.785-1252_785-1248del intron variant NM_001408398.1:c.785-1252_785-1248del intron variant NM_001408399.1:c.785-1252_785-1248del intron variant NM_001408400.1:c.785-1252_785-1248del intron variant NM_001408401.1:c.785-1252_785-1248del intron variant NM_001408402.1:c.785-1252_785-1248del intron variant NM_001408403.1:c.788-1252_788-1248del intron variant NM_001408404.1:c.788-1252_788-1248del intron variant NM_001408406.1:c.791-1261_791-1257del intron variant NM_001408407.1:c.785-1252_785-1248del intron variant NM_001408408.1:c.779-1252_779-1248del intron variant NM_001408409.1:c.710-1252_710-1248del intron variant NM_001408410.1:c.647-1252_647-1248del intron variant NM_001408411.1:c.710-1252_710-1248del intron variant NM_001408412.1:c.710-1252_710-1248del intron variant NM_001408413.1:c.707-1252_707-1248del intron variant NM_001408414.1:c.710-1252_710-1248del intron variant NM_001408415.1:c.710-1252_710-1248del intron variant NM_001408416.1:c.707-1252_707-1248del intron variant NM_001408418.1:c.671-1252_671-1248del intron variant NM_001408419.1:c.671-1252_671-1248del intron variant NM_001408420.1:c.671-1252_671-1248del intron variant NM_001408421.1:c.668-1252_668-1248del intron variant NM_001408422.1:c.671-1252_671-1248del intron variant NM_001408423.1:c.671-1252_671-1248del intron variant NM_001408424.1:c.668-1252_668-1248del intron variant NM_001408425.1:c.665-1252_665-1248del intron variant NM_001408426.1:c.665-1252_665-1248del intron variant NM_001408427.1:c.665-1252_665-1248del intron variant NM_001408428.1:c.665-1252_665-1248del intron variant NM_001408429.1:c.665-1252_665-1248del intron variant NM_001408430.1:c.665-1252_665-1248del intron variant NM_001408431.1:c.668-1252_668-1248del intron variant NM_001408432.1:c.662-1252_662-1248del intron variant NM_001408433.1:c.662-1252_662-1248del intron variant NM_001408434.1:c.662-1252_662-1248del intron variant NM_001408435.1:c.662-1252_662-1248del intron variant NM_001408436.1:c.665-1252_665-1248del intron variant NM_001408437.1:c.665-1252_665-1248del intron variant NM_001408438.1:c.665-1252_665-1248del intron variant NM_001408439.1:c.665-1252_665-1248del intron variant NM_001408440.1:c.665-1252_665-1248del intron variant NM_001408441.1:c.665-1252_665-1248del intron variant NM_001408442.1:c.665-1252_665-1248del intron variant NM_001408443.1:c.665-1252_665-1248del intron variant NM_001408444.1:c.665-1252_665-1248del intron variant NM_001408445.1:c.662-1252_662-1248del intron variant NM_001408446.1:c.662-1252_662-1248del intron variant NM_001408447.1:c.662-1252_662-1248del intron variant NM_001408448.1:c.662-1252_662-1248del intron variant NM_001408450.1:c.662-1252_662-1248del intron variant NM_001408451.1:c.653-1252_653-1248del intron variant NM_001408452.1:c.647-1252_647-1248del intron variant NM_001408453.1:c.647-1252_647-1248del intron variant NM_001408454.1:c.647-1252_647-1248del intron variant NM_001408455.1:c.647-1252_647-1248del intron variant NM_001408456.1:c.647-1252_647-1248del intron variant NM_001408457.1:c.647-1252_647-1248del intron variant NM_001408458.1:c.647-1252_647-1248del intron variant NM_001408459.1:c.647-1252_647-1248del intron variant NM_001408460.1:c.647-1252_647-1248del intron variant NM_001408461.1:c.647-1252_647-1248del intron variant NM_001408462.1:c.644-1252_644-1248del intron variant NM_001408463.1:c.644-1252_644-1248del intron variant NM_001408464.1:c.644-1252_644-1248del intron variant NM_001408465.1:c.644-1252_644-1248del intron variant NM_001408466.1:c.647-1252_647-1248del intron variant NM_001408467.1:c.647-1252_647-1248del intron variant NM_001408468.1:c.644-1252_644-1248del intron variant NM_001408469.1:c.647-1252_647-1248del intron variant NM_001408470.1:c.644-1252_644-1248del intron variant NM_001408472.1:c.788-1252_788-1248del intron variant NM_001408473.1:c.785-1252_785-1248del intron variant NM_001408474.1:c.587-1252_587-1248del intron variant NM_001408475.1:c.584-1252_584-1248del intron variant NM_001408476.1:c.587-1252_587-1248del intron variant NM_001408478.1:c.578-1252_578-1248del intron variant NM_001408479.1:c.578-1252_578-1248del intron variant NM_001408480.1:c.578-1252_578-1248del intron variant NM_001408481.1:c.578-1252_578-1248del intron variant NM_001408482.1:c.578-1252_578-1248del intron variant NM_001408483.1:c.578-1252_578-1248del intron variant NM_001408484.1:c.578-1252_578-1248del intron variant NM_001408485.1:c.578-1252_578-1248del intron variant NM_001408489.1:c.578-1252_578-1248del intron variant NM_001408490.1:c.575-1252_575-1248del intron variant NM_001408491.1:c.575-1252_575-1248del intron variant NM_001408492.1:c.578-1252_578-1248del intron variant NM_001408493.1:c.575-1252_575-1248del intron variant NM_001408494.1:c.548-1252_548-1248del intron variant NM_001408495.1:c.545-1252_545-1248del intron variant NM_001408496.1:c.524-1252_524-1248del intron variant NM_001408497.1:c.524-1252_524-1248del intron variant NM_001408498.1:c.524-1252_524-1248del intron variant NM_001408499.1:c.524-1252_524-1248del intron variant NM_001408500.1:c.524-1252_524-1248del intron variant NM_001408501.1:c.524-1252_524-1248del intron variant NM_001408502.1:c.455-1252_455-1248del intron variant NM_001408503.1:c.521-1252_521-1248del intron variant NM_001408504.1:c.521-1252_521-1248del intron variant NM_001408505.1:c.521-1252_521-1248del intron variant NM_001408506.1:c.461-1252_461-1248del intron variant NM_001408507.1:c.461-1252_461-1248del intron variant NM_001408508.1:c.452-1252_452-1248del intron variant NM_001408509.1:c.452-1252_452-1248del intron variant NM_001408510.1:c.407-1252_407-1248del intron variant NM_001408511.1:c.404-1252_404-1248del intron variant NM_001408512.1:c.284-1252_284-1248del intron variant NM_001408513.1:c.578-1252_578-1248del intron variant NM_001408514.1:c.578-1252_578-1248del intron variant NM_007294.3:c.3247_3251del frameshift nonsense NM_007294.3:c.3247_3251delATGCT frameshift nonsense NM_007297.4:c.3106_3110del NP_009228.2:p.Ala1035_Met1036insTer nonsense NM_007298.4:c.788-1252_788-1248del intron variant NM_007299.4:c.788-1252_788-1248del intron variant NM_007300.4:c.3247_3251del NP_009231.2:p.Ala1082_Met1083insTer nonsense NR_027676.1:n.3378_3382ATGCT[1] NC_000017.11:g.43092280AGCAT[1] NC_000017.10:g.41244297AGCAT[1] NG_005905.2:g.125695ATGCT[1] NG_087068.1:g.1262AGCAT[1] LRG_292:g.125695ATGCT[1] LRG_292t1:c.3242_3246ATGCT[1] LRG_292p1:p.Met1083Terfs - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:43092279:AGCATAGCAT:AGCAT
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13470 | 15363 | |
| LOC126862571 | - | - | - | GRCh38 | - | 1734 |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661066.2 | |
| Pathogenic (1) |
no assertion criteria provided
|
- | RCV001353609.2 | |
| Pathogenic (1) |
no assertion criteria provided
|
Jan 31, 2014 | RCV000496619.4 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Dec 7, 2020 | RCV001524385.3 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Apr 1, 2019 | RCV005356000.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Dec 15, 2017)
C
Contributing to aggregate classification
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study: ENIGMA
Accession: SCV000783313.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Dec 07, 2020)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001734211.1
First in ClinVar: Jun 19, 2021 Last updated: Jun 19, 2021 |
Comment:
This variant deletes 5 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 5 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
|
Pathogenic
(Apr 01, 2019)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: research
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Accession: SCV005915368.1
First in ClinVar: Apr 28, 2025 Last updated: Apr 28, 2025 |
|
|
|
Pathogenic
(Jan 31, 2014)
N
Not contributing to aggregate classification
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587287.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
|
|
Pathogenic
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
Method: clinical testing
|
Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591431.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The p.Met1083X variant has not been identified in the literature. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence … (more)
The p.Met1083X variant has not been identified in the literature. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence leading to a premature stop at codon 1083, resulting in a truncated or absent protein, and loss of function. Loss of function of the BRCA1 gene is an established disease mechanism in hereditary breast cancer patients. In summary, based on the above information, this variant is classified as pathogenic. (less)
|
Comment:
Comment:
This variant deletes 5 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The p.Met1083X variant has not been identified in the literature. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence leading to a premature stop at codon 1083, resulting in a truncated or absent protein, and loss of function. Loss of function of the BRCA1 gene is an established disease mechanism in hereditary breast cancer patients. In summary, based on the above information, this variant is classified as pathogenic.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
This variant deletes 5 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The p.Met1083X variant has not been identified in the literature. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence leading to a premature stop at codon 1083, resulting in a truncated or absent protein, and loss of function. Loss of function of the BRCA1 gene is an established disease mechanism in hereditary breast cancer patients. In summary, based on the above information, this variant is classified as pathogenic.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs1135401859 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated May 17, 2025
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.