ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3650_3651insA (p.Ser1217_Ser1218insTer)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3650_3651insA (p.Ser1217_Ser1218insTer)
Variation ID: 548286 Accession: VCV000548286.2
- Type and length
-
Insertion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091880-43091881 (GRCh38) [ NCBI UCSC ] 17: 41243897-41243898 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 13, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.3650_3651insA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1217_Ser1218insTer frameshift NM_001407571.1:c.3437_3438insA NP_001394500.1:p.Ser1146_Ser1147insTer frameshift NM_001407581.1:c.3650_3651insA NP_001394510.1:p.Ser1217_Ser1218insTer frameshift NM_001407582.1:c.3650_3651insA NP_001394511.1:p.Ser1217_Ser1218insTer frameshift NM_001407583.1:c.3650_3651insA NP_001394512.1:p.Ser1217_Ser1218insTer frameshift NM_001407585.1:c.3650_3651insA NP_001394514.1:p.Ser1217_Ser1218insTer frameshift NM_001407587.1:c.3647_3648insA NP_001394516.1:p.Ser1216_Ser1217insTer frameshift NM_001407590.1:c.3647_3648insA NP_001394519.1:p.Ser1216_Ser1217insTer frameshift NM_001407591.1:c.3647_3648insA NP_001394520.1:p.Ser1216_Ser1217insTer frameshift NM_001407593.1:c.3650_3651insA NP_001394522.1:p.Ser1217_Ser1218insTer frameshift NM_001407594.1:c.3650_3651insA NP_001394523.1:p.Ser1217_Ser1218insTer frameshift NM_001407596.1:c.3650_3651insA NP_001394525.1:p.Ser1217_Ser1218insTer frameshift NM_001407597.1:c.3650_3651insA NP_001394526.1:p.Ser1217_Ser1218insTer frameshift NM_001407598.1:c.3650_3651insA NP_001394527.1:p.Ser1217_Ser1218insTer frameshift NM_001407602.1:c.3650_3651insA NP_001394531.1:p.Ser1217_Ser1218insTer frameshift NM_001407603.1:c.3650_3651insA NP_001394532.1:p.Ser1217_Ser1218insTer frameshift NM_001407605.1:c.3650_3651insA NP_001394534.1:p.Ser1217_Ser1218insTer frameshift NM_001407610.1:c.3647_3648insA NP_001394539.1:p.Ser1216_Ser1217insTer frameshift NM_001407611.1:c.3647_3648insA NP_001394540.1:p.Ser1216_Ser1217insTer frameshift NM_001407612.1:c.3647_3648insA NP_001394541.1:p.Ser1216_Ser1217insTer frameshift NM_001407613.1:c.3647_3648insA NP_001394542.1:p.Ser1216_Ser1217insTer frameshift NM_001407614.1:c.3647_3648insA NP_001394543.1:p.Ser1216_Ser1217insTer frameshift NM_001407615.1:c.3647_3648insA NP_001394544.1:p.Ser1216_Ser1217insTer frameshift NM_001407616.1:c.3650_3651insA NP_001394545.1:p.Ser1217_Ser1218insTer frameshift NM_001407617.1:c.3650_3651insA NP_001394546.1:p.Ser1217_Ser1218insTer frameshift NM_001407618.1:c.3650_3651insA NP_001394547.1:p.Ser1217_Ser1218insTer frameshift NM_001407619.1:c.3650_3651insA NP_001394548.1:p.Ser1217_Ser1218insTer frameshift NM_001407620.1:c.3650_3651insA NP_001394549.1:p.Ser1217_Ser1218insTer frameshift NM_001407621.1:c.3650_3651insA NP_001394550.1:p.Ser1217_Ser1218insTer frameshift NM_001407622.1:c.3650_3651insA NP_001394551.1:p.Ser1217_Ser1218insTer frameshift NM_001407623.1:c.3650_3651insA NP_001394552.1:p.Ser1217_Ser1218insTer frameshift NM_001407624.1:c.3650_3651insA NP_001394553.1:p.Ser1217_Ser1218insTer frameshift NM_001407625.1:c.3650_3651insA NP_001394554.1:p.Ser1217_Ser1218insTer frameshift NM_001407626.1:c.3650_3651insA NP_001394555.1:p.Ser1217_Ser1218insTer frameshift NM_001407627.1:c.3647_3648insA NP_001394556.1:p.Ser1216_Ser1217insTer frameshift NM_001407628.1:c.3647_3648insA NP_001394557.1:p.Ser1216_Ser1217insTer frameshift NM_001407629.1:c.3647_3648insA NP_001394558.1:p.Ser1216_Ser1217insTer frameshift NM_001407630.1:c.3647_3648insA NP_001394559.1:p.Ser1216_Ser1217insTer frameshift NM_001407631.1:c.3647_3648insA NP_001394560.1:p.Ser1216_Ser1217insTer frameshift NM_001407632.1:c.3647_3648insA NP_001394561.1:p.Ser1216_Ser1217insTer frameshift NM_001407633.1:c.3647_3648insA NP_001394562.1:p.Ser1216_Ser1217insTer frameshift NM_001407634.1:c.3647_3648insA NP_001394563.1:p.Ser1216_Ser1217insTer frameshift NM_001407635.1:c.3647_3648insA NP_001394564.1:p.Ser1216_Ser1217insTer frameshift NM_001407636.1:c.3647_3648insA NP_001394565.1:p.Ser1216_Ser1217insTer frameshift NM_001407637.1:c.3647_3648insA NP_001394566.1:p.Ser1216_Ser1217insTer frameshift NM_001407638.1:c.3647_3648insA NP_001394567.1:p.Ser1216_Ser1217insTer frameshift NM_001407639.1:c.3650_3651insA NP_001394568.1:p.Ser1217_Ser1218insTer frameshift NM_001407640.1:c.3650_3651insA NP_001394569.1:p.Ser1217_Ser1218insTer frameshift NM_001407641.1:c.3650_3651insA NP_001394570.1:p.Ser1217_Ser1218insTer frameshift NM_001407642.1:c.3650_3651insA NP_001394571.1:p.Ser1217_Ser1218insTer frameshift NM_001407644.1:c.3647_3648insA NP_001394573.1:p.Ser1216_Ser1217insTer frameshift NM_001407645.1:c.3647_3648insA NP_001394574.1:p.Ser1216_Ser1217insTer frameshift NM_001407646.1:c.3641_3642insA NP_001394575.1:p.Ser1214_Ser1215insTer frameshift NM_001407647.1:c.3641_3642insA NP_001394576.1:p.Ser1214_Ser1215insTer frameshift NM_001407648.1:c.3527_3528insA NP_001394577.1:p.Ser1176_Ser1177insTer frameshift NM_001407649.1:c.3524_3525insA NP_001394578.1:p.Ser1175_Ser1176insTer frameshift NM_001407652.1:c.3650_3651insA NP_001394581.1:p.Ser1217_Ser1218insTer frameshift NM_001407653.1:c.3572_3573insA NP_001394582.1:p.Ser1191_Ser1192insTer frameshift NM_001407654.1:c.3572_3573insA NP_001394583.1:p.Ser1191_Ser1192insTer frameshift NM_001407655.1:c.3572_3573insA NP_001394584.1:p.Ser1191_Ser1192insTer frameshift NM_001407656.1:c.3572_3573insA NP_001394585.1:p.Ser1191_Ser1192insTer frameshift NM_001407657.1:c.3572_3573insA NP_001394586.1:p.Ser1191_Ser1192insTer frameshift NM_001407658.1:c.3572_3573insA NP_001394587.1:p.Ser1191_Ser1192insTer frameshift NM_001407659.1:c.3569_3570insA NP_001394588.1:p.Ser1190_Ser1191insTer frameshift NM_001407660.1:c.3569_3570insA NP_001394589.1:p.Ser1190_Ser1191insTer frameshift NM_001407661.1:c.3569_3570insA NP_001394590.1:p.Ser1190_Ser1191insTer frameshift NM_001407662.1:c.3569_3570insA NP_001394591.1:p.Ser1190_Ser1191insTer frameshift NM_001407663.1:c.3572_3573insA NP_001394592.1:p.Ser1191_Ser1192insTer frameshift NM_001407664.1:c.3527_3528insA NP_001394593.1:p.Ser1176_Ser1177insTer frameshift NM_001407665.1:c.3527_3528insA NP_001394594.1:p.Ser1176_Ser1177insTer frameshift NM_001407666.1:c.3527_3528insA NP_001394595.1:p.Ser1176_Ser1177insTer frameshift NM_001407667.1:c.3527_3528insA NP_001394596.1:p.Ser1176_Ser1177insTer frameshift NM_001407668.1:c.3527_3528insA NP_001394597.1:p.Ser1176_Ser1177insTer frameshift NM_001407669.1:c.3527_3528insA NP_001394598.1:p.Ser1176_Ser1177insTer frameshift NM_001407670.1:c.3524_3525insA NP_001394599.1:p.Ser1175_Ser1176insTer frameshift NM_001407671.1:c.3524_3525insA NP_001394600.1:p.Ser1175_Ser1176insTer frameshift NM_001407672.1:c.3524_3525insA NP_001394601.1:p.Ser1175_Ser1176insTer frameshift NM_001407673.1:c.3524_3525insA NP_001394602.1:p.Ser1175_Ser1176insTer frameshift NM_001407674.1:c.3527_3528insA NP_001394603.1:p.Ser1176_Ser1177insTer frameshift NM_001407675.1:c.3527_3528insA NP_001394604.1:p.Ser1176_Ser1177insTer frameshift NM_001407676.1:c.3527_3528insA NP_001394605.1:p.Ser1176_Ser1177insTer frameshift NM_001407677.1:c.3527_3528insA NP_001394606.1:p.Ser1176_Ser1177insTer frameshift NM_001407678.1:c.3527_3528insA NP_001394607.1:p.Ser1176_Ser1177insTer frameshift NM_001407679.1:c.3527_3528insA NP_001394608.1:p.Ser1176_Ser1177insTer frameshift NM_001407680.1:c.3527_3528insA NP_001394609.1:p.Ser1176_Ser1177insTer frameshift NM_001407681.1:c.3527_3528insA NP_001394610.1:p.Ser1176_Ser1177insTer frameshift NM_001407682.1:c.3527_3528insA NP_001394611.1:p.Ser1176_Ser1177insTer frameshift NM_001407683.1:c.3527_3528insA NP_001394612.1:p.Ser1176_Ser1177insTer frameshift NM_001407684.1:c.3650_3651insA NP_001394613.1:p.Ser1217_Ser1218insTer frameshift NM_001407685.1:c.3524_3525insA NP_001394614.1:p.Ser1175_Ser1176insTer frameshift NM_001407686.1:c.3524_3525insA NP_001394615.1:p.Ser1175_Ser1176insTer frameshift NM_001407687.1:c.3524_3525insA NP_001394616.1:p.Ser1175_Ser1176insTer frameshift NM_001407688.1:c.3524_3525insA NP_001394617.1:p.Ser1175_Ser1176insTer frameshift NM_001407689.1:c.3524_3525insA NP_001394618.1:p.Ser1175_Ser1176insTer frameshift NM_001407690.1:c.3524_3525insA NP_001394619.1:p.Ser1175_Ser1176insTer frameshift NM_001407691.1:c.3524_3525insA NP_001394620.1:p.Ser1175_Ser1176insTer frameshift NM_001407692.1:c.3509_3510insA NP_001394621.1:p.Ser1170_Ser1171insTer frameshift NM_001407694.1:c.3509_3510insA NP_001394623.1:p.Ser1170_Ser1171insTer frameshift NM_001407695.1:c.3509_3510insA NP_001394624.1:p.Ser1170_Ser1171insTer frameshift NM_001407696.1:c.3509_3510insA NP_001394625.1:p.Ser1170_Ser1171insTer frameshift NM_001407697.1:c.3509_3510insA NP_001394626.1:p.Ser1170_Ser1171insTer frameshift NM_001407698.1:c.3509_3510insA NP_001394627.1:p.Ser1170_Ser1171insTer frameshift NM_001407724.1:c.3509_3510insA NP_001394653.1:p.Ser1170_Ser1171insTer frameshift NM_001407725.1:c.3509_3510insA NP_001394654.1:p.Ser1170_Ser1171insTer frameshift NM_001407726.1:c.3509_3510insA NP_001394655.1:p.Ser1170_Ser1171insTer frameshift NM_001407727.1:c.3509_3510insA NP_001394656.1:p.Ser1170_Ser1171insTer frameshift NM_001407728.1:c.3509_3510insA NP_001394657.1:p.Ser1170_Ser1171insTer frameshift NM_001407729.1:c.3509_3510insA NP_001394658.1:p.Ser1170_Ser1171insTer frameshift NM_001407730.1:c.3509_3510insA NP_001394659.1:p.Ser1170_Ser1171insTer frameshift NM_001407731.1:c.3509_3510insA NP_001394660.1:p.Ser1170_Ser1171insTer frameshift NM_001407732.1:c.3509_3510insA NP_001394661.1:p.Ser1170_Ser1171insTer frameshift NM_001407733.1:c.3509_3510insA NP_001394662.1:p.Ser1170_Ser1171insTer frameshift NM_001407734.1:c.3509_3510insA NP_001394663.1:p.Ser1170_Ser1171insTer frameshift NM_001407735.1:c.3509_3510insA NP_001394664.1:p.Ser1170_Ser1171insTer frameshift NM_001407736.1:c.3509_3510insA NP_001394665.1:p.Ser1170_Ser1171insTer frameshift NM_001407737.1:c.3509_3510insA NP_001394666.1:p.Ser1170_Ser1171insTer frameshift NM_001407738.1:c.3509_3510insA NP_001394667.1:p.Ser1170_Ser1171insTer frameshift NM_001407739.1:c.3509_3510insA NP_001394668.1:p.Ser1170_Ser1171insTer frameshift NM_001407740.1:c.3506_3507insA NP_001394669.1:p.Ser1169_Ser1170insTer frameshift NM_001407741.1:c.3506_3507insA NP_001394670.1:p.Ser1169_Ser1170insTer frameshift NM_001407742.1:c.3506_3507insA NP_001394671.1:p.Ser1169_Ser1170insTer frameshift NM_001407743.1:c.3506_3507insA NP_001394672.1:p.Ser1169_Ser1170insTer frameshift NM_001407744.1:c.3506_3507insA NP_001394673.1:p.Ser1169_Ser1170insTer frameshift NM_001407745.1:c.3506_3507insA NP_001394674.1:p.Ser1169_Ser1170insTer frameshift NM_001407746.1:c.3506_3507insA NP_001394675.1:p.Ser1169_Ser1170insTer frameshift NM_001407747.1:c.3506_3507insA NP_001394676.1:p.Ser1169_Ser1170insTer frameshift NM_001407748.1:c.3506_3507insA NP_001394677.1:p.Ser1169_Ser1170insTer frameshift NM_001407749.1:c.3506_3507insA NP_001394678.1:p.Ser1169_Ser1170insTer frameshift NM_001407750.1:c.3509_3510insA NP_001394679.1:p.Ser1170_Ser1171insTer frameshift NM_001407751.1:c.3509_3510insA NP_001394680.1:p.Ser1170_Ser1171insTer frameshift NM_001407752.1:c.3509_3510insA NP_001394681.1:p.Ser1170_Ser1171insTer frameshift NM_001407838.1:c.3506_3507insA NP_001394767.1:p.Ser1169_Ser1170insTer frameshift NM_001407839.1:c.3506_3507insA NP_001394768.1:p.Ser1169_Ser1170insTer frameshift NM_001407841.1:c.3506_3507insA NP_001394770.1:p.Ser1169_Ser1170insTer frameshift NM_001407842.1:c.3506_3507insA NP_001394771.1:p.Ser1169_Ser1170insTer frameshift NM_001407843.1:c.3506_3507insA NP_001394772.1:p.Ser1169_Ser1170insTer frameshift NM_001407844.1:c.3506_3507insA NP_001394773.1:p.Ser1169_Ser1170insTer frameshift NM_001407845.1:c.3506_3507insA NP_001394774.1:p.Ser1169_Ser1170insTer frameshift NM_001407846.1:c.3506_3507insA NP_001394775.1:p.Ser1169_Ser1170insTer frameshift NM_001407847.1:c.3506_3507insA NP_001394776.1:p.Ser1169_Ser1170insTer frameshift NM_001407848.1:c.3506_3507insA NP_001394777.1:p.Ser1169_Ser1170insTer frameshift NM_001407849.1:c.3506_3507insA NP_001394778.1:p.Ser1169_Ser1170insTer frameshift NM_001407850.1:c.3509_3510insA NP_001394779.1:p.Ser1170_Ser1171insTer frameshift NM_001407851.1:c.3509_3510insA NP_001394780.1:p.Ser1170_Ser1171insTer frameshift NM_001407852.1:c.3509_3510insA NP_001394781.1:p.Ser1170_Ser1171insTer frameshift NM_001407853.1:c.3437_3438insA NP_001394782.1:p.Ser1146_Ser1147insTer frameshift NM_001407854.1:c.3650_3651insA NP_001394783.1:p.Ser1217_Ser1218insTer frameshift NM_001407858.1:c.3650_3651insA NP_001394787.1:p.Ser1217_Ser1218insTer frameshift NM_001407859.1:c.3650_3651insA NP_001394788.1:p.Ser1217_Ser1218insTer frameshift NM_001407860.1:c.3647_3648insA NP_001394789.1:p.Ser1216_Ser1217insTer frameshift NM_001407861.1:c.3647_3648insA NP_001394790.1:p.Ser1216_Ser1217insTer frameshift NM_001407862.1:c.3449_3450insA NP_001394791.1:p.Ser1150_Ser1151insTer frameshift NM_001407863.1:c.3527_3528insA NP_001394792.1:p.Ser1176_Ser1177insTer frameshift NM_001407874.1:c.3446_3447insA NP_001394803.1:p.Ser1149_Ser1150insTer frameshift NM_001407875.1:c.3446_3447insA NP_001394804.1:p.Ser1149_Ser1150insTer frameshift NM_001407879.1:c.3440_3441insA NP_001394808.1:p.Ser1147_Ser1148insTer frameshift NM_001407881.1:c.3440_3441insA NP_001394810.1:p.Ser1147_Ser1148insTer frameshift NM_001407882.1:c.3440_3441insA NP_001394811.1:p.Ser1147_Ser1148insTer frameshift NM_001407884.1:c.3440_3441insA NP_001394813.1:p.Ser1147_Ser1148insTer frameshift NM_001407885.1:c.3440_3441insA NP_001394814.1:p.Ser1147_Ser1148insTer frameshift NM_001407886.1:c.3440_3441insA NP_001394815.1:p.Ser1147_Ser1148insTer frameshift NM_001407887.1:c.3440_3441insA NP_001394816.1:p.Ser1147_Ser1148insTer frameshift NM_001407889.1:c.3440_3441insA NP_001394818.1:p.Ser1147_Ser1148insTer frameshift NM_001407894.1:c.3437_3438insA NP_001394823.1:p.Ser1146_Ser1147insTer frameshift NM_001407895.1:c.3437_3438insA NP_001394824.1:p.Ser1146_Ser1147insTer frameshift NM_001407896.1:c.3437_3438insA NP_001394825.1:p.Ser1146_Ser1147insTer frameshift NM_001407897.1:c.3437_3438insA NP_001394826.1:p.Ser1146_Ser1147insTer frameshift NM_001407898.1:c.3437_3438insA NP_001394827.1:p.Ser1146_Ser1147insTer frameshift NM_001407899.1:c.3437_3438insA NP_001394828.1:p.Ser1146_Ser1147insTer frameshift NM_001407900.1:c.3440_3441insA NP_001394829.1:p.Ser1147_Ser1148insTer frameshift NM_001407902.1:c.3440_3441insA NP_001394831.1:p.Ser1147_Ser1148insTer frameshift NM_001407904.1:c.3440_3441insA NP_001394833.1:p.Ser1147_Ser1148insTer frameshift NM_001407906.1:c.3440_3441insA NP_001394835.1:p.Ser1147_Ser1148insTer frameshift NM_001407907.1:c.3440_3441insA NP_001394836.1:p.Ser1147_Ser1148insTer frameshift NM_001407908.1:c.3440_3441insA NP_001394837.1:p.Ser1147_Ser1148insTer frameshift NM_001407909.1:c.3440_3441insA NP_001394838.1:p.Ser1147_Ser1148insTer frameshift NM_001407910.1:c.3440_3441insA NP_001394839.1:p.Ser1147_Ser1148insTer frameshift NM_001407915.1:c.3437_3438insA NP_001394844.1:p.Ser1146_Ser1147insTer frameshift NM_001407916.1:c.3437_3438insA NP_001394845.1:p.Ser1146_Ser1147insTer frameshift NM_001407917.1:c.3437_3438insA NP_001394846.1:p.Ser1146_Ser1147insTer frameshift NM_001407918.1:c.3437_3438insA NP_001394847.1:p.Ser1146_Ser1147insTer frameshift NM_001407919.1:c.3527_3528insA NP_001394848.1:p.Ser1176_Ser1177insTer frameshift NM_001407920.1:c.3386_3387insA NP_001394849.1:p.Ser1129_Ser1130insTer frameshift NM_001407921.1:c.3386_3387insA NP_001394850.1:p.Ser1129_Ser1130insTer frameshift NM_001407922.1:c.3386_3387insA NP_001394851.1:p.Ser1129_Ser1130insTer frameshift NM_001407923.1:c.3386_3387insA NP_001394852.1:p.Ser1129_Ser1130insTer frameshift NM_001407924.1:c.3386_3387insA NP_001394853.1:p.Ser1129_Ser1130insTer frameshift NM_001407925.1:c.3386_3387insA NP_001394854.1:p.Ser1129_Ser1130insTer frameshift NM_001407926.1:c.3386_3387insA NP_001394855.1:p.Ser1129_Ser1130insTer frameshift NM_001407927.1:c.3386_3387insA NP_001394856.1:p.Ser1129_Ser1130insTer frameshift NM_001407928.1:c.3386_3387insA NP_001394857.1:p.Ser1129_Ser1130insTer frameshift NM_001407929.1:c.3386_3387insA NP_001394858.1:p.Ser1129_Ser1130insTer frameshift NM_001407930.1:c.3383_3384insA NP_001394859.1:p.Ser1128_Ser1129insTer frameshift NM_001407931.1:c.3383_3384insA NP_001394860.1:p.Ser1128_Ser1129insTer frameshift NM_001407932.1:c.3383_3384insA NP_001394861.1:p.Ser1128_Ser1129insTer frameshift NM_001407933.1:c.3386_3387insA NP_001394862.1:p.Ser1129_Ser1130insTer frameshift NM_001407934.1:c.3383_3384insA NP_001394863.1:p.Ser1128_Ser1129insTer frameshift NM_001407935.1:c.3386_3387insA NP_001394864.1:p.Ser1129_Ser1130insTer frameshift NM_001407936.1:c.3383_3384insA NP_001394865.1:p.Ser1128_Ser1129insTer frameshift NM_001407937.1:c.3527_3528insA NP_001394866.1:p.Ser1176_Ser1177insTer frameshift NM_001407938.1:c.3527_3528insA NP_001394867.1:p.Ser1176_Ser1177insTer frameshift NM_001407939.1:c.3527_3528insA NP_001394868.1:p.Ser1176_Ser1177insTer frameshift NM_001407940.1:c.3524_3525insA NP_001394869.1:p.Ser1175_Ser1176insTer frameshift NM_001407941.1:c.3524_3525insA NP_001394870.1:p.Ser1175_Ser1176insTer frameshift NM_001407942.1:c.3509_3510insA NP_001394871.1:p.Ser1170_Ser1171insTer frameshift NM_001407943.1:c.3506_3507insA NP_001394872.1:p.Ser1169_Ser1170insTer frameshift NM_001407944.1:c.3509_3510insA NP_001394873.1:p.Ser1170_Ser1171insTer frameshift NM_001407945.1:c.3509_3510insA NP_001394874.1:p.Ser1170_Ser1171insTer frameshift NM_001407946.1:c.3317_3318insA NP_001394875.1:p.Ser1106_Ser1107insTer frameshift NM_001407947.1:c.3317_3318insA NP_001394876.1:p.Ser1106_Ser1107insTer frameshift NM_001407948.1:c.3317_3318insA NP_001394877.1:p.Ser1106_Ser1107insTer frameshift NM_001407949.1:c.3317_3318insA NP_001394878.1:p.Ser1106_Ser1107insTer frameshift NM_001407950.1:c.3317_3318insA NP_001394879.1:p.Ser1106_Ser1107insTer frameshift NM_001407951.1:c.3317_3318insA NP_001394880.1:p.Ser1106_Ser1107insTer frameshift NM_001407952.1:c.3317_3318insA NP_001394881.1:p.Ser1106_Ser1107insTer frameshift NM_001407953.1:c.3317_3318insA NP_001394882.1:p.Ser1106_Ser1107insTer frameshift NM_001407954.1:c.3314_3315insA NP_001394883.1:p.Ser1105_Ser1106insTer frameshift NM_001407955.1:c.3314_3315insA NP_001394884.1:p.Ser1105_Ser1106insTer frameshift NM_001407956.1:c.3314_3315insA NP_001394885.1:p.Ser1105_Ser1106insTer frameshift NM_001407957.1:c.3317_3318insA NP_001394886.1:p.Ser1106_Ser1107insTer frameshift NM_001407958.1:c.3314_3315insA NP_001394887.1:p.Ser1105_Ser1106insTer frameshift NM_001407959.1:c.3269_3270insA NP_001394888.1:p.Ser1090_Ser1091insTer frameshift NM_001407960.1:c.3269_3270insA NP_001394889.1:p.Ser1090_Ser1091insTer frameshift NM_001407962.1:c.3266_3267insA NP_001394891.1:p.Ser1089_Ser1090insTer frameshift NM_001407963.1:c.3269_3270insA NP_001394892.1:p.Ser1090_Ser1091insTer frameshift NM_001407964.1:c.3506_3507insA NP_001394893.1:p.Ser1169_Ser1170insTer frameshift NM_001407965.1:c.3146_3147insA NP_001394894.1:p.Ser1049_Ser1050insTer frameshift NM_001407966.1:c.2762_2763insA NP_001394895.1:p.Ser921_Ser922insTer frameshift NM_001407967.1:c.2762_2763insA NP_001394896.1:p.Ser921_Ser922insTer frameshift NM_001407968.1:c.1046_1047insA NP_001394897.1:p.Ser349_Ser350insTer frameshift NM_001407969.1:c.1046_1047insA NP_001394898.1:p.Ser349_Ser350insTer frameshift NM_001407970.1:c.788-849_788-848insA intron variant NM_001407971.1:c.788-849_788-848insA intron variant NM_001407972.1:c.785-849_785-848insA intron variant NM_001407973.1:c.788-849_788-848insA intron variant NM_001407974.1:c.788-849_788-848insA intron variant NM_001407975.1:c.788-849_788-848insA intron variant NM_001407976.1:c.788-849_788-848insA intron variant NM_001407977.1:c.788-849_788-848insA intron variant NM_001407978.1:c.788-849_788-848insA intron variant NM_001407979.1:c.788-849_788-848insA intron variant NM_001407980.1:c.788-849_788-848insA intron variant NM_001407981.1:c.788-849_788-848insA intron variant NM_001407982.1:c.788-849_788-848insA intron variant NM_001407983.1:c.788-849_788-848insA intron variant NM_001407984.1:c.785-849_785-848insA intron variant NM_001407985.1:c.785-849_785-848insA intron variant NM_001407986.1:c.785-849_785-848insA intron variant NM_001407990.1:c.788-849_788-848insA intron variant NM_001407991.1:c.785-849_785-848insA intron variant NM_001407992.1:c.785-849_785-848insA intron variant NM_001407993.1:c.788-849_788-848insA intron variant NM_001408392.1:c.785-849_785-848insA intron variant NM_001408396.1:c.785-849_785-848insA intron variant NM_001408397.1:c.785-849_785-848insA intron variant NM_001408398.1:c.785-849_785-848insA intron variant NM_001408399.1:c.785-849_785-848insA intron variant NM_001408400.1:c.785-849_785-848insA intron variant NM_001408401.1:c.785-849_785-848insA intron variant NM_001408402.1:c.785-849_785-848insA intron variant NM_001408403.1:c.788-849_788-848insA intron variant NM_001408404.1:c.788-849_788-848insA intron variant NM_001408406.1:c.791-858_791-857insA intron variant NM_001408407.1:c.785-849_785-848insA intron variant NM_001408408.1:c.779-849_779-848insA intron variant NM_001408409.1:c.710-849_710-848insA intron variant NM_001408410.1:c.647-849_647-848insA intron variant NM_001408411.1:c.710-849_710-848insA intron variant NM_001408412.1:c.710-849_710-848insA intron variant NM_001408413.1:c.707-849_707-848insA intron variant NM_001408414.1:c.710-849_710-848insA intron variant NM_001408415.1:c.710-849_710-848insA intron variant NM_001408416.1:c.707-849_707-848insA intron variant NM_001408418.1:c.671-849_671-848insA intron variant NM_001408419.1:c.671-849_671-848insA intron variant NM_001408420.1:c.671-849_671-848insA intron variant NM_001408421.1:c.668-849_668-848insA intron variant NM_001408422.1:c.671-849_671-848insA intron variant NM_001408423.1:c.671-849_671-848insA intron variant NM_001408424.1:c.668-849_668-848insA intron variant NM_001408425.1:c.665-849_665-848insA intron variant NM_001408426.1:c.665-849_665-848insA intron variant NM_001408427.1:c.665-849_665-848insA intron variant NM_001408428.1:c.665-849_665-848insA intron variant NM_001408429.1:c.665-849_665-848insA intron variant NM_001408430.1:c.665-849_665-848insA intron variant NM_001408431.1:c.668-849_668-848insA intron variant NM_001408432.1:c.662-849_662-848insA intron variant NM_001408433.1:c.662-849_662-848insA intron variant NM_001408434.1:c.662-849_662-848insA intron variant NM_001408435.1:c.662-849_662-848insA intron variant NM_001408436.1:c.665-849_665-848insA intron variant NM_001408437.1:c.665-849_665-848insA intron variant NM_001408438.1:c.665-849_665-848insA intron variant NM_001408439.1:c.665-849_665-848insA intron variant NM_001408440.1:c.665-849_665-848insA intron variant NM_001408441.1:c.665-849_665-848insA intron variant NM_001408442.1:c.665-849_665-848insA intron variant NM_001408443.1:c.665-849_665-848insA intron variant NM_001408444.1:c.665-849_665-848insA intron variant NM_001408445.1:c.662-849_662-848insA intron variant NM_001408446.1:c.662-849_662-848insA intron variant NM_001408447.1:c.662-849_662-848insA intron variant NM_001408448.1:c.662-849_662-848insA intron variant NM_001408450.1:c.662-849_662-848insA intron variant NM_001408451.1:c.653-849_653-848insA intron variant NM_001408452.1:c.647-849_647-848insA intron variant NM_001408453.1:c.647-849_647-848insA intron variant NM_001408454.1:c.647-849_647-848insA intron variant NM_001408455.1:c.647-849_647-848insA intron variant NM_001408456.1:c.647-849_647-848insA intron variant NM_001408457.1:c.647-849_647-848insA intron variant NM_001408458.1:c.647-849_647-848insA intron variant NM_001408459.1:c.647-849_647-848insA intron variant NM_001408460.1:c.647-849_647-848insA intron variant NM_001408461.1:c.647-849_647-848insA intron variant NM_001408462.1:c.644-849_644-848insA intron variant NM_001408463.1:c.644-849_644-848insA intron variant NM_001408464.1:c.644-849_644-848insA intron variant NM_001408465.1:c.644-849_644-848insA intron variant NM_001408466.1:c.647-849_647-848insA intron variant NM_001408467.1:c.647-849_647-848insA intron variant NM_001408468.1:c.644-849_644-848insA intron variant NM_001408469.1:c.647-849_647-848insA intron variant NM_001408470.1:c.644-849_644-848insA intron variant NM_001408472.1:c.788-849_788-848insA intron variant NM_001408473.1:c.785-849_785-848insA intron variant NM_001408474.1:c.587-849_587-848insA intron variant NM_001408475.1:c.584-849_584-848insA intron variant NM_001408476.1:c.587-849_587-848insA intron variant NM_001408478.1:c.578-849_578-848insA intron variant NM_001408479.1:c.578-849_578-848insA intron variant NM_001408480.1:c.578-849_578-848insA intron variant NM_001408481.1:c.578-849_578-848insA intron variant NM_001408482.1:c.578-849_578-848insA intron variant NM_001408483.1:c.578-849_578-848insA intron variant NM_001408484.1:c.578-849_578-848insA intron variant NM_001408485.1:c.578-849_578-848insA intron variant NM_001408489.1:c.578-849_578-848insA intron variant NM_001408490.1:c.575-849_575-848insA intron variant NM_001408491.1:c.575-849_575-848insA intron variant NM_001408492.1:c.578-849_578-848insA intron variant NM_001408493.1:c.575-849_575-848insA intron variant NM_001408494.1:c.548-849_548-848insA intron variant NM_001408495.1:c.545-849_545-848insA intron variant NM_001408496.1:c.524-849_524-848insA intron variant NM_001408497.1:c.524-849_524-848insA intron variant NM_001408498.1:c.524-849_524-848insA intron variant NM_001408499.1:c.524-849_524-848insA intron variant NM_001408500.1:c.524-849_524-848insA intron variant NM_001408501.1:c.524-849_524-848insA intron variant NM_001408502.1:c.455-849_455-848insA intron variant NM_001408503.1:c.521-849_521-848insA intron variant NM_001408504.1:c.521-849_521-848insA intron variant NM_001408505.1:c.521-849_521-848insA intron variant NM_001408506.1:c.461-849_461-848insA intron variant NM_001408507.1:c.461-849_461-848insA intron variant NM_001408508.1:c.452-849_452-848insA intron variant NM_001408509.1:c.452-849_452-848insA intron variant NM_001408510.1:c.407-849_407-848insA intron variant NM_001408511.1:c.404-849_404-848insA intron variant NM_001408512.1:c.284-849_284-848insA intron variant NM_001408513.1:c.578-849_578-848insA intron variant NM_001408514.1:c.578-849_578-848insA intron variant NM_007297.4:c.3509_3510insA NP_009228.2:p.Ser1170_Ser1171insTer frameshift NM_007298.4:c.788-849_788-848insA intron variant NM_007299.4:c.788-849_788-848insA intron variant NM_007300.4:c.3650_3651insA NP_009231.2:p.Ser1217_Ser1218insTer frameshift NR_027676.1:n.3786_3787insA NC_000017.11:g.43091880_43091881insT NC_000017.10:g.41243897_41243898insT NG_005905.2:g.126103_126104insA NG_087068.1:g.862_863insT LRG_292:g.126103_126104insA LRG_292t1:c.3650_3651insA LRG_292p1:p.Ser1218Terfs - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091880::T
-
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 | ||
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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. |
|||
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) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661277.2 |
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
(Dec 15, 2017)
|
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: SCV000783542.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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
HelpThere 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 rs1555587337 ...
HelpRecord last updated Oct 08, 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.