ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3447_3448del (p.Thr1149_Pro1150insTer)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3447_3448del (p.Thr1149_Pro1150insTer)
Variation ID: 937832 Accession: VCV000937832.7
- Type and length
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Microsatellite, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43092083-43092084 (GRCh38) [ NCBI UCSC ] 17: 41244100-41244101 (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 Jul 16, 2020 Feb 20, 2024 Nov 13, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3447_3448del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1149_Pro1150insTer frameshift NM_001407571.1:c.3234_3235del NP_001394500.1:p.Thr1078_Pro1079insTer frameshift NM_001407581.1:c.3447_3448del NP_001394510.1:p.Thr1149_Pro1150insTer frameshift NM_001407582.1:c.3447_3448del NP_001394511.1:p.Thr1149_Pro1150insTer frameshift NM_001407583.1:c.3447_3448del NP_001394512.1:p.Thr1149_Pro1150insTer frameshift NM_001407585.1:c.3447_3448del NP_001394514.1:p.Thr1149_Pro1150insTer frameshift NM_001407587.1:c.3444_3445del NP_001394516.1:p.Thr1148_Pro1149insTer frameshift NM_001407590.1:c.3444_3445del NP_001394519.1:p.Thr1148_Pro1149insTer frameshift NM_001407591.1:c.3444_3445del NP_001394520.1:p.Thr1148_Pro1149insTer frameshift NM_001407593.1:c.3447_3448del NP_001394522.1:p.Thr1149_Pro1150insTer frameshift NM_001407594.1:c.3447_3448del NP_001394523.1:p.Thr1149_Pro1150insTer frameshift NM_001407596.1:c.3447_3448del NP_001394525.1:p.Thr1149_Pro1150insTer frameshift NM_001407597.1:c.3447_3448del NP_001394526.1:p.Thr1149_Pro1150insTer frameshift NM_001407598.1:c.3447_3448del NP_001394527.1:p.Thr1149_Pro1150insTer frameshift NM_001407602.1:c.3447_3448del NP_001394531.1:p.Thr1149_Pro1150insTer frameshift NM_001407603.1:c.3447_3448del NP_001394532.1:p.Thr1149_Pro1150insTer frameshift NM_001407605.1:c.3447_3448del NP_001394534.1:p.Thr1149_Pro1150insTer frameshift NM_001407610.1:c.3444_3445del NP_001394539.1:p.Thr1148_Pro1149insTer frameshift NM_001407611.1:c.3444_3445del NP_001394540.1:p.Thr1148_Pro1149insTer frameshift NM_001407612.1:c.3444_3445del NP_001394541.1:p.Thr1148_Pro1149insTer frameshift NM_001407613.1:c.3444_3445del NP_001394542.1:p.Thr1148_Pro1149insTer frameshift NM_001407614.1:c.3444_3445del NP_001394543.1:p.Thr1148_Pro1149insTer frameshift NM_001407615.1:c.3444_3445del NP_001394544.1:p.Thr1148_Pro1149insTer frameshift NM_001407616.1:c.3447_3448del NP_001394545.1:p.Thr1149_Pro1150insTer frameshift NM_001407617.1:c.3447_3448del NP_001394546.1:p.Thr1149_Pro1150insTer frameshift NM_001407618.1:c.3447_3448del NP_001394547.1:p.Thr1149_Pro1150insTer frameshift NM_001407619.1:c.3447_3448del NP_001394548.1:p.Thr1149_Pro1150insTer frameshift NM_001407620.1:c.3447_3448del NP_001394549.1:p.Thr1149_Pro1150insTer frameshift NM_001407621.1:c.3447_3448del NP_001394550.1:p.Thr1149_Pro1150insTer frameshift NM_001407622.1:c.3447_3448del NP_001394551.1:p.Thr1149_Pro1150insTer frameshift NM_001407623.1:c.3447_3448del NP_001394552.1:p.Thr1149_Pro1150insTer frameshift NM_001407624.1:c.3447_3448del NP_001394553.1:p.Thr1149_Pro1150insTer frameshift NM_001407625.1:c.3447_3448del NP_001394554.1:p.Thr1149_Pro1150insTer frameshift NM_001407626.1:c.3447_3448del NP_001394555.1:p.Thr1149_Pro1150insTer frameshift NM_001407627.1:c.3444_3445del NP_001394556.1:p.Thr1148_Pro1149insTer frameshift NM_001407628.1:c.3444_3445del NP_001394557.1:p.Thr1148_Pro1149insTer frameshift NM_001407629.1:c.3444_3445del NP_001394558.1:p.Thr1148_Pro1149insTer frameshift NM_001407630.1:c.3444_3445del NP_001394559.1:p.Thr1148_Pro1149insTer frameshift NM_001407631.1:c.3444_3445del NP_001394560.1:p.Thr1148_Pro1149insTer frameshift NM_001407632.1:c.3444_3445del NP_001394561.1:p.Thr1148_Pro1149insTer frameshift NM_001407633.1:c.3444_3445del NP_001394562.1:p.Thr1148_Pro1149insTer frameshift NM_001407634.1:c.3444_3445del NP_001394563.1:p.Thr1148_Pro1149insTer frameshift NM_001407635.1:c.3444_3445del NP_001394564.1:p.Thr1148_Pro1149insTer frameshift NM_001407636.1:c.3444_3445del NP_001394565.1:p.Thr1148_Pro1149insTer frameshift NM_001407637.1:c.3444_3445del NP_001394566.1:p.Thr1148_Pro1149insTer frameshift NM_001407638.1:c.3444_3445del NP_001394567.1:p.Thr1148_Pro1149insTer frameshift NM_001407639.1:c.3447_3448del NP_001394568.1:p.Thr1149_Pro1150insTer frameshift NM_001407640.1:c.3447_3448del NP_001394569.1:p.Thr1149_Pro1150insTer frameshift NM_001407641.1:c.3447_3448del NP_001394570.1:p.Thr1149_Pro1150insTer frameshift NM_001407642.1:c.3447_3448del NP_001394571.1:p.Thr1149_Pro1150insTer frameshift NM_001407644.1:c.3444_3445del NP_001394573.1:p.Thr1148_Pro1149insTer frameshift NM_001407645.1:c.3444_3445del NP_001394574.1:p.Thr1148_Pro1149insTer frameshift NM_001407646.1:c.3438_3439del NP_001394575.1:p.Thr1146_Pro1147insTer frameshift NM_001407647.1:c.3438_3439del NP_001394576.1:p.Thr1146_Pro1147insTer frameshift NM_001407648.1:c.3324_3325del NP_001394577.1:p.Thr1108_Pro1109insTer frameshift NM_001407649.1:c.3321_3322del NP_001394578.1:p.Thr1107_Pro1108insTer frameshift NM_001407652.1:c.3447_3448del NP_001394581.1:p.Thr1149_Pro1150insTer frameshift NM_001407653.1:c.3369_3370del NP_001394582.1:p.Thr1123_Pro1124insTer frameshift NM_001407654.1:c.3369_3370del NP_001394583.1:p.Thr1123_Pro1124insTer frameshift NM_001407655.1:c.3369_3370del NP_001394584.1:p.Thr1123_Pro1124insTer frameshift NM_001407656.1:c.3369_3370del NP_001394585.1:p.Thr1123_Pro1124insTer frameshift NM_001407657.1:c.3369_3370del NP_001394586.1:p.Thr1123_Pro1124insTer frameshift NM_001407658.1:c.3369_3370del NP_001394587.1:p.Thr1123_Pro1124insTer frameshift NM_001407659.1:c.3366_3367del NP_001394588.1:p.Thr1122_Pro1123insTer frameshift NM_001407660.1:c.3366_3367del NP_001394589.1:p.Thr1122_Pro1123insTer frameshift NM_001407661.1:c.3366_3367del NP_001394590.1:p.Thr1122_Pro1123insTer frameshift NM_001407662.1:c.3366_3367del NP_001394591.1:p.Thr1122_Pro1123insTer frameshift NM_001407663.1:c.3369_3370del NP_001394592.1:p.Thr1123_Pro1124insTer frameshift NM_001407664.1:c.3324_3325del NP_001394593.1:p.Thr1108_Pro1109insTer frameshift NM_001407665.1:c.3324_3325del NP_001394594.1:p.Thr1108_Pro1109insTer frameshift NM_001407666.1:c.3324_3325del NP_001394595.1:p.Thr1108_Pro1109insTer frameshift NM_001407667.1:c.3324_3325del NP_001394596.1:p.Thr1108_Pro1109insTer frameshift NM_001407668.1:c.3324_3325del NP_001394597.1:p.Thr1108_Pro1109insTer frameshift NM_001407669.1:c.3324_3325del NP_001394598.1:p.Thr1108_Pro1109insTer frameshift NM_001407670.1:c.3321_3322del NP_001394599.1:p.Thr1107_Pro1108insTer frameshift NM_001407671.1:c.3321_3322del NP_001394600.1:p.Thr1107_Pro1108insTer frameshift NM_001407672.1:c.3321_3322del NP_001394601.1:p.Thr1107_Pro1108insTer frameshift NM_001407673.1:c.3321_3322del NP_001394602.1:p.Thr1107_Pro1108insTer frameshift NM_001407674.1:c.3324_3325del NP_001394603.1:p.Thr1108_Pro1109insTer frameshift NM_001407675.1:c.3324_3325del NP_001394604.1:p.Thr1108_Pro1109insTer frameshift NM_001407676.1:c.3324_3325del NP_001394605.1:p.Thr1108_Pro1109insTer frameshift NM_001407677.1:c.3324_3325del NP_001394606.1:p.Thr1108_Pro1109insTer frameshift NM_001407678.1:c.3324_3325del NP_001394607.1:p.Thr1108_Pro1109insTer frameshift NM_001407679.1:c.3324_3325del NP_001394608.1:p.Thr1108_Pro1109insTer frameshift NM_001407680.1:c.3324_3325del NP_001394609.1:p.Thr1108_Pro1109insTer frameshift NM_001407681.1:c.3324_3325del NP_001394610.1:p.Thr1108_Pro1109insTer frameshift NM_001407682.1:c.3324_3325del NP_001394611.1:p.Thr1108_Pro1109insTer frameshift NM_001407683.1:c.3324_3325del NP_001394612.1:p.Thr1108_Pro1109insTer frameshift NM_001407684.1:c.3447_3448del NP_001394613.1:p.Thr1149_Pro1150insTer frameshift NM_001407685.1:c.3321_3322del NP_001394614.1:p.Thr1107_Pro1108insTer frameshift NM_001407686.1:c.3321_3322del NP_001394615.1:p.Thr1107_Pro1108insTer frameshift NM_001407687.1:c.3321_3322del NP_001394616.1:p.Thr1107_Pro1108insTer frameshift NM_001407688.1:c.3321_3322del NP_001394617.1:p.Thr1107_Pro1108insTer frameshift NM_001407689.1:c.3321_3322del NP_001394618.1:p.Thr1107_Pro1108insTer frameshift NM_001407690.1:c.3321_3322del NP_001394619.1:p.Thr1107_Pro1108insTer frameshift NM_001407691.1:c.3321_3322del NP_001394620.1:p.Thr1107_Pro1108insTer frameshift NM_001407692.1:c.3306_3307del NP_001394621.1:p.Thr1102_Pro1103insTer frameshift NM_001407694.1:c.3306_3307del NP_001394623.1:p.Thr1102_Pro1103insTer frameshift NM_001407695.1:c.3306_3307del NP_001394624.1:p.Thr1102_Pro1103insTer frameshift NM_001407696.1:c.3306_3307del NP_001394625.1:p.Thr1102_Pro1103insTer frameshift NM_001407697.1:c.3306_3307del NP_001394626.1:p.Thr1102_Pro1103insTer frameshift NM_001407698.1:c.3306_3307del NP_001394627.1:p.Thr1102_Pro1103insTer frameshift NM_001407724.1:c.3306_3307del NP_001394653.1:p.Thr1102_Pro1103insTer frameshift NM_001407725.1:c.3306_3307del NP_001394654.1:p.Thr1102_Pro1103insTer frameshift NM_001407726.1:c.3306_3307del NP_001394655.1:p.Thr1102_Pro1103insTer frameshift NM_001407727.1:c.3306_3307del NP_001394656.1:p.Thr1102_Pro1103insTer frameshift NM_001407728.1:c.3306_3307del NP_001394657.1:p.Thr1102_Pro1103insTer frameshift NM_001407729.1:c.3306_3307del NP_001394658.1:p.Thr1102_Pro1103insTer frameshift NM_001407730.1:c.3306_3307del NP_001394659.1:p.Thr1102_Pro1103insTer frameshift NM_001407731.1:c.3306_3307del NP_001394660.1:p.Thr1102_Pro1103insTer frameshift NM_001407732.1:c.3306_3307del NP_001394661.1:p.Thr1102_Pro1103insTer frameshift NM_001407733.1:c.3306_3307del NP_001394662.1:p.Thr1102_Pro1103insTer frameshift NM_001407734.1:c.3306_3307del NP_001394663.1:p.Thr1102_Pro1103insTer frameshift NM_001407735.1:c.3306_3307del NP_001394664.1:p.Thr1102_Pro1103insTer frameshift NM_001407736.1:c.3306_3307del NP_001394665.1:p.Thr1102_Pro1103insTer frameshift NM_001407737.1:c.3306_3307del NP_001394666.1:p.Thr1102_Pro1103insTer frameshift NM_001407738.1:c.3306_3307del NP_001394667.1:p.Thr1102_Pro1103insTer frameshift NM_001407739.1:c.3306_3307del NP_001394668.1:p.Thr1102_Pro1103insTer frameshift NM_001407740.1:c.3303_3304del NP_001394669.1:p.Thr1101_Pro1102insTer frameshift NM_001407741.1:c.3303_3304del NP_001394670.1:p.Thr1101_Pro1102insTer frameshift NM_001407742.1:c.3303_3304del NP_001394671.1:p.Thr1101_Pro1102insTer frameshift NM_001407743.1:c.3303_3304del NP_001394672.1:p.Thr1101_Pro1102insTer frameshift NM_001407744.1:c.3303_3304del NP_001394673.1:p.Thr1101_Pro1102insTer frameshift NM_001407745.1:c.3303_3304del NP_001394674.1:p.Thr1101_Pro1102insTer frameshift NM_001407746.1:c.3303_3304del NP_001394675.1:p.Thr1101_Pro1102insTer frameshift NM_001407747.1:c.3303_3304del NP_001394676.1:p.Thr1101_Pro1102insTer frameshift NM_001407748.1:c.3303_3304del NP_001394677.1:p.Thr1101_Pro1102insTer frameshift NM_001407749.1:c.3303_3304del NP_001394678.1:p.Thr1101_Pro1102insTer frameshift NM_001407750.1:c.3306_3307del NP_001394679.1:p.Thr1102_Pro1103insTer frameshift NM_001407751.1:c.3306_3307del NP_001394680.1:p.Thr1102_Pro1103insTer frameshift NM_001407752.1:c.3306_3307del NP_001394681.1:p.Thr1102_Pro1103insTer frameshift NM_001407838.1:c.3303_3304del NP_001394767.1:p.Thr1101_Pro1102insTer frameshift NM_001407839.1:c.3303_3304del NP_001394768.1:p.Thr1101_Pro1102insTer frameshift NM_001407841.1:c.3303_3304del NP_001394770.1:p.Thr1101_Pro1102insTer frameshift NM_001407842.1:c.3303_3304del NP_001394771.1:p.Thr1101_Pro1102insTer frameshift NM_001407843.1:c.3303_3304del NP_001394772.1:p.Thr1101_Pro1102insTer frameshift NM_001407844.1:c.3303_3304del NP_001394773.1:p.Thr1101_Pro1102insTer frameshift NM_001407845.1:c.3303_3304del NP_001394774.1:p.Thr1101_Pro1102insTer frameshift NM_001407846.1:c.3303_3304del NP_001394775.1:p.Thr1101_Pro1102insTer frameshift NM_001407847.1:c.3303_3304del NP_001394776.1:p.Thr1101_Pro1102insTer frameshift NM_001407848.1:c.3303_3304del NP_001394777.1:p.Thr1101_Pro1102insTer frameshift NM_001407849.1:c.3303_3304del NP_001394778.1:p.Thr1101_Pro1102insTer frameshift NM_001407850.1:c.3306_3307del NP_001394779.1:p.Thr1102_Pro1103insTer frameshift NM_001407851.1:c.3306_3307del NP_001394780.1:p.Thr1102_Pro1103insTer frameshift NM_001407852.1:c.3306_3307del NP_001394781.1:p.Thr1102_Pro1103insTer frameshift NM_001407853.1:c.3234_3235del NP_001394782.1:p.Thr1078_Pro1079insTer frameshift NM_001407854.1:c.3447_3448del NP_001394783.1:p.Thr1149_Pro1150insTer frameshift NM_001407858.1:c.3447_3448del NP_001394787.1:p.Thr1149_Pro1150insTer frameshift NM_001407859.1:c.3447_3448del NP_001394788.1:p.Thr1149_Pro1150insTer frameshift NM_001407860.1:c.3444_3445del NP_001394789.1:p.Thr1148_Pro1149insTer frameshift NM_001407861.1:c.3444_3445del NP_001394790.1:p.Thr1148_Pro1149insTer frameshift NM_001407862.1:c.3246_3247del NP_001394791.1:p.Thr1082_Pro1083insTer frameshift NM_001407863.1:c.3324_3325del NP_001394792.1:p.Thr1108_Pro1109insTer frameshift NM_001407874.1:c.3243_3244del NP_001394803.1:p.Thr1081_Pro1082insTer frameshift NM_001407875.1:c.3243_3244del NP_001394804.1:p.Thr1081_Pro1082insTer frameshift NM_001407879.1:c.3237_3238del NP_001394808.1:p.Thr1079_Pro1080insTer frameshift NM_001407881.1:c.3237_3238del NP_001394810.1:p.Thr1079_Pro1080insTer frameshift NM_001407882.1:c.3237_3238del NP_001394811.1:p.Thr1079_Pro1080insTer frameshift NM_001407884.1:c.3237_3238del NP_001394813.1:p.Thr1079_Pro1080insTer frameshift NM_001407885.1:c.3237_3238del NP_001394814.1:p.Thr1079_Pro1080insTer frameshift NM_001407886.1:c.3237_3238del NP_001394815.1:p.Thr1079_Pro1080insTer frameshift NM_001407887.1:c.3237_3238del NP_001394816.1:p.Thr1079_Pro1080insTer frameshift NM_001407889.1:c.3237_3238del NP_001394818.1:p.Thr1079_Pro1080insTer frameshift NM_001407894.1:c.3234_3235del NP_001394823.1:p.Thr1078_Pro1079insTer frameshift NM_001407895.1:c.3234_3235del NP_001394824.1:p.Thr1078_Pro1079insTer frameshift NM_001407896.1:c.3234_3235del NP_001394825.1:p.Thr1078_Pro1079insTer frameshift NM_001407897.1:c.3234_3235del NP_001394826.1:p.Thr1078_Pro1079insTer frameshift NM_001407898.1:c.3234_3235del NP_001394827.1:p.Thr1078_Pro1079insTer frameshift NM_001407899.1:c.3234_3235del NP_001394828.1:p.Thr1078_Pro1079insTer frameshift NM_001407900.1:c.3237_3238del NP_001394829.1:p.Thr1079_Pro1080insTer frameshift NM_001407902.1:c.3237_3238del NP_001394831.1:p.Thr1079_Pro1080insTer frameshift NM_001407904.1:c.3237_3238del NP_001394833.1:p.Thr1079_Pro1080insTer frameshift NM_001407906.1:c.3237_3238del NP_001394835.1:p.Thr1079_Pro1080insTer frameshift NM_001407907.1:c.3237_3238del NP_001394836.1:p.Thr1079_Pro1080insTer frameshift NM_001407908.1:c.3237_3238del NP_001394837.1:p.Thr1079_Pro1080insTer frameshift NM_001407909.1:c.3237_3238del NP_001394838.1:p.Thr1079_Pro1080insTer frameshift NM_001407910.1:c.3237_3238del NP_001394839.1:p.Thr1079_Pro1080insTer frameshift NM_001407915.1:c.3234_3235del NP_001394844.1:p.Thr1078_Pro1079insTer frameshift NM_001407916.1:c.3234_3235del NP_001394845.1:p.Thr1078_Pro1079insTer frameshift NM_001407917.1:c.3234_3235del NP_001394846.1:p.Thr1078_Pro1079insTer frameshift NM_001407918.1:c.3234_3235del NP_001394847.1:p.Thr1078_Pro1079insTer frameshift NM_001407919.1:c.3324_3325del NP_001394848.1:p.Thr1108_Pro1109insTer frameshift NM_001407920.1:c.3183_3184del NP_001394849.1:p.Thr1061_Pro1062insTer frameshift NM_001407921.1:c.3183_3184del NP_001394850.1:p.Thr1061_Pro1062insTer frameshift NM_001407922.1:c.3183_3184del NP_001394851.1:p.Thr1061_Pro1062insTer frameshift NM_001407923.1:c.3183_3184del NP_001394852.1:p.Thr1061_Pro1062insTer frameshift NM_001407924.1:c.3183_3184del NP_001394853.1:p.Thr1061_Pro1062insTer frameshift NM_001407925.1:c.3183_3184del NP_001394854.1:p.Thr1061_Pro1062insTer frameshift NM_001407926.1:c.3183_3184del NP_001394855.1:p.Thr1061_Pro1062insTer frameshift NM_001407927.1:c.3183_3184del NP_001394856.1:p.Thr1061_Pro1062insTer frameshift NM_001407928.1:c.3183_3184del NP_001394857.1:p.Thr1061_Pro1062insTer frameshift NM_001407929.1:c.3183_3184del NP_001394858.1:p.Thr1061_Pro1062insTer frameshift NM_001407930.1:c.3180_3181del NP_001394859.1:p.Thr1060_Pro1061insTer frameshift NM_001407931.1:c.3180_3181del NP_001394860.1:p.Thr1060_Pro1061insTer frameshift NM_001407932.1:c.3180_3181del NP_001394861.1:p.Thr1060_Pro1061insTer frameshift NM_001407933.1:c.3183_3184del NP_001394862.1:p.Thr1061_Pro1062insTer frameshift NM_001407934.1:c.3180_3181del NP_001394863.1:p.Thr1060_Pro1061insTer frameshift NM_001407935.1:c.3183_3184del NP_001394864.1:p.Thr1061_Pro1062insTer frameshift NM_001407936.1:c.3180_3181del NP_001394865.1:p.Thr1060_Pro1061insTer frameshift NM_001407937.1:c.3324_3325del NP_001394866.1:p.Thr1108_Pro1109insTer frameshift NM_001407938.1:c.3324_3325del NP_001394867.1:p.Thr1108_Pro1109insTer frameshift NM_001407939.1:c.3324_3325del NP_001394868.1:p.Thr1108_Pro1109insTer frameshift NM_001407940.1:c.3321_3322del NP_001394869.1:p.Thr1107_Pro1108insTer frameshift NM_001407941.1:c.3321_3322del NP_001394870.1:p.Thr1107_Pro1108insTer frameshift NM_001407942.1:c.3306_3307del NP_001394871.1:p.Thr1102_Pro1103insTer frameshift NM_001407943.1:c.3303_3304del NP_001394872.1:p.Thr1101_Pro1102insTer frameshift NM_001407944.1:c.3306_3307del NP_001394873.1:p.Thr1102_Pro1103insTer frameshift NM_001407945.1:c.3306_3307del NP_001394874.1:p.Thr1102_Pro1103insTer frameshift NM_001407946.1:c.3114_3115del NP_001394875.1:p.Thr1038_Pro1039insTer frameshift NM_001407947.1:c.3114_3115del NP_001394876.1:p.Thr1038_Pro1039insTer frameshift NM_001407948.1:c.3114_3115del NP_001394877.1:p.Thr1038_Pro1039insTer frameshift NM_001407949.1:c.3114_3115del NP_001394878.1:p.Thr1038_Pro1039insTer frameshift NM_001407950.1:c.3114_3115del NP_001394879.1:p.Thr1038_Pro1039insTer frameshift NM_001407951.1:c.3114_3115del NP_001394880.1:p.Thr1038_Pro1039insTer frameshift NM_001407952.1:c.3114_3115del NP_001394881.1:p.Thr1038_Pro1039insTer frameshift NM_001407953.1:c.3114_3115del NP_001394882.1:p.Thr1038_Pro1039insTer frameshift NM_001407954.1:c.3111_3112del NP_001394883.1:p.Thr1037_Pro1038insTer frameshift NM_001407955.1:c.3111_3112del NP_001394884.1:p.Thr1037_Pro1038insTer frameshift NM_001407956.1:c.3111_3112del NP_001394885.1:p.Thr1037_Pro1038insTer frameshift NM_001407957.1:c.3114_3115del NP_001394886.1:p.Thr1038_Pro1039insTer frameshift NM_001407958.1:c.3111_3112del NP_001394887.1:p.Thr1037_Pro1038insTer frameshift NM_001407959.1:c.3066_3067del NP_001394888.1:p.Thr1022_Pro1023insTer frameshift NM_001407960.1:c.3066_3067del NP_001394889.1:p.Thr1022_Pro1023insTer frameshift NM_001407962.1:c.3063_3064del NP_001394891.1:p.Thr1021_Pro1022insTer frameshift NM_001407963.1:c.3066_3067del NP_001394892.1:p.Thr1022_Pro1023insTer frameshift NM_001407964.1:c.3303_3304del NP_001394893.1:p.Thr1101_Pro1102insTer frameshift NM_001407965.1:c.2943_2944del NP_001394894.1:p.Thr981_Pro982insTer frameshift NM_001407966.1:c.2559_2560del NP_001394895.1:p.Thr853_Pro854insTer frameshift NM_001407967.1:c.2559_2560del NP_001394896.1:p.Thr853_Pro854insTer frameshift NM_001407968.1:c.843_844del NP_001394897.1:p.Thr281_Pro282insTer frameshift NM_001407969.1:c.843_844del NP_001394898.1:p.Thr281_Pro282insTer frameshift NM_001407970.1:c.788-1052_788-1051del intron variant NM_001407971.1:c.788-1052_788-1051del intron variant NM_001407972.1:c.785-1052_785-1051del intron variant NM_001407973.1:c.788-1052_788-1051del intron variant NM_001407974.1:c.788-1052_788-1051del intron variant NM_001407975.1:c.788-1052_788-1051del intron variant NM_001407976.1:c.788-1052_788-1051del intron variant NM_001407977.1:c.788-1052_788-1051del intron variant NM_001407978.1:c.788-1052_788-1051del intron variant NM_001407979.1:c.788-1052_788-1051del intron variant NM_001407980.1:c.788-1052_788-1051del intron variant NM_001407981.1:c.788-1052_788-1051del intron variant NM_001407982.1:c.788-1052_788-1051del intron variant NM_001407983.1:c.788-1052_788-1051del intron variant NM_001407984.1:c.785-1052_785-1051del intron variant NM_001407985.1:c.785-1052_785-1051del intron variant NM_001407986.1:c.785-1052_785-1051del intron variant NM_001407990.1:c.788-1052_788-1051del intron variant NM_001407991.1:c.785-1052_785-1051del intron variant NM_001407992.1:c.785-1052_785-1051del intron variant NM_001407993.1:c.788-1052_788-1051del intron variant NM_001408392.1:c.785-1052_785-1051del intron variant NM_001408396.1:c.785-1052_785-1051del intron variant NM_001408397.1:c.785-1052_785-1051del intron variant NM_001408398.1:c.785-1052_785-1051del intron variant NM_001408399.1:c.785-1052_785-1051del intron variant NM_001408400.1:c.785-1052_785-1051del intron variant NM_001408401.1:c.785-1052_785-1051del intron variant NM_001408402.1:c.785-1052_785-1051del intron variant NM_001408403.1:c.788-1052_788-1051del intron variant NM_001408404.1:c.788-1052_788-1051del intron variant NM_001408406.1:c.791-1061_791-1060del intron variant NM_001408407.1:c.785-1052_785-1051del intron variant NM_001408408.1:c.779-1052_779-1051del intron variant NM_001408409.1:c.710-1052_710-1051del intron variant NM_001408410.1:c.647-1052_647-1051del intron variant NM_001408411.1:c.710-1052_710-1051del intron variant NM_001408412.1:c.710-1052_710-1051del intron variant NM_001408413.1:c.707-1052_707-1051del intron variant NM_001408414.1:c.710-1052_710-1051del intron variant NM_001408415.1:c.710-1052_710-1051del intron variant NM_001408416.1:c.707-1052_707-1051del intron variant NM_001408418.1:c.671-1052_671-1051del intron variant NM_001408419.1:c.671-1052_671-1051del intron variant NM_001408420.1:c.671-1052_671-1051del intron variant NM_001408421.1:c.668-1052_668-1051del intron variant NM_001408422.1:c.671-1052_671-1051del intron variant NM_001408423.1:c.671-1052_671-1051del intron variant NM_001408424.1:c.668-1052_668-1051del intron variant NM_001408425.1:c.665-1052_665-1051del intron variant NM_001408426.1:c.665-1052_665-1051del intron variant NM_001408427.1:c.665-1052_665-1051del intron variant NM_001408428.1:c.665-1052_665-1051del intron variant NM_001408429.1:c.665-1052_665-1051del intron variant NM_001408430.1:c.665-1052_665-1051del intron variant NM_001408431.1:c.668-1052_668-1051del intron variant NM_001408432.1:c.662-1052_662-1051del intron variant NM_001408433.1:c.662-1052_662-1051del intron variant NM_001408434.1:c.662-1052_662-1051del intron variant NM_001408435.1:c.662-1052_662-1051del intron variant NM_001408436.1:c.665-1052_665-1051del intron variant NM_001408437.1:c.665-1052_665-1051del intron variant NM_001408438.1:c.665-1052_665-1051del intron variant NM_001408439.1:c.665-1052_665-1051del intron variant NM_001408440.1:c.665-1052_665-1051del intron variant NM_001408441.1:c.665-1052_665-1051del intron variant NM_001408442.1:c.665-1052_665-1051del intron variant NM_001408443.1:c.665-1052_665-1051del intron variant NM_001408444.1:c.665-1052_665-1051del intron variant NM_001408445.1:c.662-1052_662-1051del intron variant NM_001408446.1:c.662-1052_662-1051del intron variant NM_001408447.1:c.662-1052_662-1051del intron variant NM_001408448.1:c.662-1052_662-1051del intron variant NM_001408450.1:c.662-1052_662-1051del intron variant NM_001408451.1:c.653-1052_653-1051del intron variant NM_001408452.1:c.647-1052_647-1051del intron variant NM_001408453.1:c.647-1052_647-1051del intron variant NM_001408454.1:c.647-1052_647-1051del intron variant NM_001408455.1:c.647-1052_647-1051del intron variant NM_001408456.1:c.647-1052_647-1051del intron variant NM_001408457.1:c.647-1052_647-1051del intron variant NM_001408458.1:c.647-1052_647-1051del intron variant NM_001408459.1:c.647-1052_647-1051del intron variant NM_001408460.1:c.647-1052_647-1051del intron variant NM_001408461.1:c.647-1052_647-1051del intron variant NM_001408462.1:c.644-1052_644-1051del intron variant NM_001408463.1:c.644-1052_644-1051del intron variant NM_001408464.1:c.644-1052_644-1051del intron variant NM_001408465.1:c.644-1052_644-1051del intron variant NM_001408466.1:c.647-1052_647-1051del intron variant NM_001408467.1:c.647-1052_647-1051del intron variant NM_001408468.1:c.644-1052_644-1051del intron variant NM_001408469.1:c.647-1052_647-1051del intron variant NM_001408470.1:c.644-1052_644-1051del intron variant NM_001408472.1:c.788-1052_788-1051del intron variant NM_001408473.1:c.785-1052_785-1051del intron variant NM_001408474.1:c.587-1052_587-1051del intron variant NM_001408475.1:c.584-1052_584-1051del intron variant NM_001408476.1:c.587-1052_587-1051del intron variant NM_001408478.1:c.578-1052_578-1051del intron variant NM_001408479.1:c.578-1052_578-1051del intron variant NM_001408480.1:c.578-1052_578-1051del intron variant NM_001408481.1:c.578-1052_578-1051del intron variant NM_001408482.1:c.578-1052_578-1051del intron variant NM_001408483.1:c.578-1052_578-1051del intron variant NM_001408484.1:c.578-1052_578-1051del intron variant NM_001408485.1:c.578-1052_578-1051del intron variant NM_001408489.1:c.578-1052_578-1051del intron variant NM_001408490.1:c.575-1052_575-1051del intron variant NM_001408491.1:c.575-1052_575-1051del intron variant NM_001408492.1:c.578-1052_578-1051del intron variant NM_001408493.1:c.575-1052_575-1051del intron variant NM_001408494.1:c.548-1052_548-1051del intron variant NM_001408495.1:c.545-1052_545-1051del intron variant NM_001408496.1:c.524-1052_524-1051del intron variant NM_001408497.1:c.524-1052_524-1051del intron variant NM_001408498.1:c.524-1052_524-1051del intron variant NM_001408499.1:c.524-1052_524-1051del intron variant NM_001408500.1:c.524-1052_524-1051del intron variant NM_001408501.1:c.524-1052_524-1051del intron variant NM_001408502.1:c.455-1052_455-1051del intron variant NM_001408503.1:c.521-1052_521-1051del intron variant NM_001408504.1:c.521-1052_521-1051del intron variant NM_001408505.1:c.521-1052_521-1051del intron variant NM_001408506.1:c.461-1052_461-1051del intron variant NM_001408507.1:c.461-1052_461-1051del intron variant NM_001408508.1:c.452-1052_452-1051del intron variant NM_001408509.1:c.452-1052_452-1051del intron variant NM_001408510.1:c.407-1052_407-1051del intron variant NM_001408511.1:c.404-1052_404-1051del intron variant NM_001408512.1:c.284-1052_284-1051del intron variant NM_001408513.1:c.578-1052_578-1051del intron variant NM_001408514.1:c.578-1052_578-1051del intron variant NM_007294.3:c.3447_3448del frameshift nonsense NM_007297.4:c.3306_3307del NP_009228.2:p.Thr1102_Pro1103insTer frameshift NM_007298.4:c.788-1052_788-1051del intron variant NM_007299.4:c.788-1052_788-1051del intron variant NM_007300.4:c.3447_3448del NP_009231.2:p.Thr1149_Pro1150insTer frameshift NR_027676.1:n.3581_3582AC[1] NC_000017.11:g.43092083GT[1] NC_000017.10:g.41244100GT[1] NG_005905.2:g.125898AC[1] NG_087068.1:g.1065GT[1] LRG_292:g.125898AC[1] LRG_292t1:c.3445_3446AC[1] LRG_292p1:p.Pro1150Terfs - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43092082:GTGT:GT
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 | |
LOC126862571 | - | - | - | GRCh38 | - | 1651 |
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. |
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Pathogenic (1) |
criteria provided, single submitter
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Nov 13, 2019 | RCV001206938.7 |
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. |
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Pathogenic
(Nov 13, 2019)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001378272.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 20, 2024 |
Comment:
This variant has not been reported in the literature in individuals with BRCA1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function … (more)
This variant has not been reported in the literature in individuals with BRCA1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro1150*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (less)
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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. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs2053585404 ...
HelpRecord last updated Sep 29, 2024
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.