ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3359_3360insG (p.Val1120_Asn1121insTer)
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.3359_3360insG (p.Val1120_Asn1121insTer)
Variation ID: 1174600 Accession: VCV001174600.8
- Type and length
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Insertion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092171-43092172 (GRCh38) [ NCBI UCSC ] 17: 41244188-41244189 (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 7, 2021 May 1, 2024 Apr 9, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3359_3360insG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1120_Asn1121insTer frameshift NM_001407571.1:c.3146_3147insG NP_001394500.1:p.Val1049_Asn1050insTer frameshift NM_001407581.1:c.3359_3360insG NP_001394510.1:p.Val1120_Asn1121insTer frameshift NM_001407582.1:c.3359_3360insG NP_001394511.1:p.Val1120_Asn1121insTer frameshift NM_001407583.1:c.3359_3360insG NP_001394512.1:p.Val1120_Asn1121insTer frameshift NM_001407585.1:c.3359_3360insG NP_001394514.1:p.Val1120_Asn1121insTer frameshift NM_001407587.1:c.3356_3357insG NP_001394516.1:p.Val1119_Asn1120insTer frameshift NM_001407590.1:c.3356_3357insG NP_001394519.1:p.Val1119_Asn1120insTer frameshift NM_001407591.1:c.3356_3357insG NP_001394520.1:p.Val1119_Asn1120insTer frameshift NM_001407593.1:c.3359_3360insG NP_001394522.1:p.Val1120_Asn1121insTer frameshift NM_001407594.1:c.3359_3360insG NP_001394523.1:p.Val1120_Asn1121insTer frameshift NM_001407596.1:c.3359_3360insG NP_001394525.1:p.Val1120_Asn1121insTer frameshift NM_001407597.1:c.3359_3360insG NP_001394526.1:p.Val1120_Asn1121insTer frameshift NM_001407598.1:c.3359_3360insG NP_001394527.1:p.Val1120_Asn1121insTer frameshift NM_001407602.1:c.3359_3360insG NP_001394531.1:p.Val1120_Asn1121insTer frameshift NM_001407603.1:c.3359_3360insG NP_001394532.1:p.Val1120_Asn1121insTer frameshift NM_001407605.1:c.3359_3360insG NP_001394534.1:p.Val1120_Asn1121insTer frameshift NM_001407610.1:c.3356_3357insG NP_001394539.1:p.Val1119_Asn1120insTer frameshift NM_001407611.1:c.3356_3357insG NP_001394540.1:p.Val1119_Asn1120insTer frameshift NM_001407612.1:c.3356_3357insG NP_001394541.1:p.Val1119_Asn1120insTer frameshift NM_001407613.1:c.3356_3357insG NP_001394542.1:p.Val1119_Asn1120insTer frameshift NM_001407614.1:c.3356_3357insG NP_001394543.1:p.Val1119_Asn1120insTer frameshift NM_001407615.1:c.3356_3357insG NP_001394544.1:p.Val1119_Asn1120insTer frameshift NM_001407616.1:c.3359_3360insG NP_001394545.1:p.Val1120_Asn1121insTer frameshift NM_001407617.1:c.3359_3360insG NP_001394546.1:p.Val1120_Asn1121insTer frameshift NM_001407618.1:c.3359_3360insG NP_001394547.1:p.Val1120_Asn1121insTer frameshift NM_001407619.1:c.3359_3360insG NP_001394548.1:p.Val1120_Asn1121insTer frameshift NM_001407620.1:c.3359_3360insG NP_001394549.1:p.Val1120_Asn1121insTer frameshift NM_001407621.1:c.3359_3360insG NP_001394550.1:p.Val1120_Asn1121insTer frameshift NM_001407622.1:c.3359_3360insG NP_001394551.1:p.Val1120_Asn1121insTer frameshift NM_001407623.1:c.3359_3360insG NP_001394552.1:p.Val1120_Asn1121insTer frameshift NM_001407624.1:c.3359_3360insG NP_001394553.1:p.Val1120_Asn1121insTer frameshift NM_001407625.1:c.3359_3360insG NP_001394554.1:p.Val1120_Asn1121insTer frameshift NM_001407626.1:c.3359_3360insG NP_001394555.1:p.Val1120_Asn1121insTer frameshift NM_001407627.1:c.3356_3357insG NP_001394556.1:p.Val1119_Asn1120insTer frameshift NM_001407628.1:c.3356_3357insG NP_001394557.1:p.Val1119_Asn1120insTer frameshift NM_001407629.1:c.3356_3357insG NP_001394558.1:p.Val1119_Asn1120insTer frameshift NM_001407630.1:c.3356_3357insG NP_001394559.1:p.Val1119_Asn1120insTer frameshift NM_001407631.1:c.3356_3357insG NP_001394560.1:p.Val1119_Asn1120insTer frameshift NM_001407632.1:c.3356_3357insG NP_001394561.1:p.Val1119_Asn1120insTer frameshift NM_001407633.1:c.3356_3357insG NP_001394562.1:p.Val1119_Asn1120insTer frameshift NM_001407634.1:c.3356_3357insG NP_001394563.1:p.Val1119_Asn1120insTer frameshift NM_001407635.1:c.3356_3357insG NP_001394564.1:p.Val1119_Asn1120insTer frameshift NM_001407636.1:c.3356_3357insG NP_001394565.1:p.Val1119_Asn1120insTer frameshift NM_001407637.1:c.3356_3357insG NP_001394566.1:p.Val1119_Asn1120insTer frameshift NM_001407638.1:c.3356_3357insG NP_001394567.1:p.Val1119_Asn1120insTer frameshift NM_001407639.1:c.3359_3360insG NP_001394568.1:p.Val1120_Asn1121insTer frameshift NM_001407640.1:c.3359_3360insG NP_001394569.1:p.Val1120_Asn1121insTer frameshift NM_001407641.1:c.3359_3360insG NP_001394570.1:p.Val1120_Asn1121insTer frameshift NM_001407642.1:c.3359_3360insG NP_001394571.1:p.Val1120_Asn1121insTer frameshift NM_001407644.1:c.3356_3357insG NP_001394573.1:p.Val1119_Asn1120insTer frameshift NM_001407645.1:c.3356_3357insG NP_001394574.1:p.Val1119_Asn1120insTer frameshift NM_001407646.1:c.3350_3351insG NP_001394575.1:p.Val1117_Asn1118insTer frameshift NM_001407647.1:c.3350_3351insG NP_001394576.1:p.Val1117_Asn1118insTer frameshift NM_001407648.1:c.3236_3237insG NP_001394577.1:p.Val1079_Asn1080insTer frameshift NM_001407649.1:c.3233_3234insG NP_001394578.1:p.Val1078_Asn1079insTer frameshift NM_001407652.1:c.3359_3360insG NP_001394581.1:p.Val1120_Asn1121insTer frameshift NM_001407653.1:c.3281_3282insG NP_001394582.1:p.Val1094_Asn1095insTer frameshift NM_001407654.1:c.3281_3282insG NP_001394583.1:p.Val1094_Asn1095insTer frameshift NM_001407655.1:c.3281_3282insG NP_001394584.1:p.Val1094_Asn1095insTer frameshift NM_001407656.1:c.3281_3282insG NP_001394585.1:p.Val1094_Asn1095insTer frameshift NM_001407657.1:c.3281_3282insG NP_001394586.1:p.Val1094_Asn1095insTer frameshift NM_001407658.1:c.3281_3282insG NP_001394587.1:p.Val1094_Asn1095insTer frameshift NM_001407659.1:c.3278_3279insG NP_001394588.1:p.Val1093_Asn1094insTer frameshift NM_001407660.1:c.3278_3279insG NP_001394589.1:p.Val1093_Asn1094insTer frameshift NM_001407661.1:c.3278_3279insG NP_001394590.1:p.Val1093_Asn1094insTer frameshift NM_001407662.1:c.3278_3279insG NP_001394591.1:p.Val1093_Asn1094insTer frameshift NM_001407663.1:c.3281_3282insG NP_001394592.1:p.Val1094_Asn1095insTer frameshift NM_001407664.1:c.3236_3237insG NP_001394593.1:p.Val1079_Asn1080insTer frameshift NM_001407665.1:c.3236_3237insG NP_001394594.1:p.Val1079_Asn1080insTer frameshift NM_001407666.1:c.3236_3237insG NP_001394595.1:p.Val1079_Asn1080insTer frameshift NM_001407667.1:c.3236_3237insG NP_001394596.1:p.Val1079_Asn1080insTer frameshift NM_001407668.1:c.3236_3237insG NP_001394597.1:p.Val1079_Asn1080insTer frameshift NM_001407669.1:c.3236_3237insG NP_001394598.1:p.Val1079_Asn1080insTer frameshift NM_001407670.1:c.3233_3234insG NP_001394599.1:p.Val1078_Asn1079insTer frameshift NM_001407671.1:c.3233_3234insG NP_001394600.1:p.Val1078_Asn1079insTer frameshift NM_001407672.1:c.3233_3234insG NP_001394601.1:p.Val1078_Asn1079insTer frameshift NM_001407673.1:c.3233_3234insG NP_001394602.1:p.Val1078_Asn1079insTer frameshift NM_001407674.1:c.3236_3237insG NP_001394603.1:p.Val1079_Asn1080insTer frameshift NM_001407675.1:c.3236_3237insG NP_001394604.1:p.Val1079_Asn1080insTer frameshift NM_001407676.1:c.3236_3237insG NP_001394605.1:p.Val1079_Asn1080insTer frameshift NM_001407677.1:c.3236_3237insG NP_001394606.1:p.Val1079_Asn1080insTer frameshift NM_001407678.1:c.3236_3237insG NP_001394607.1:p.Val1079_Asn1080insTer frameshift NM_001407679.1:c.3236_3237insG NP_001394608.1:p.Val1079_Asn1080insTer frameshift NM_001407680.1:c.3236_3237insG NP_001394609.1:p.Val1079_Asn1080insTer frameshift NM_001407681.1:c.3236_3237insG NP_001394610.1:p.Val1079_Asn1080insTer frameshift NM_001407682.1:c.3236_3237insG NP_001394611.1:p.Val1079_Asn1080insTer frameshift NM_001407683.1:c.3236_3237insG NP_001394612.1:p.Val1079_Asn1080insTer frameshift NM_001407684.1:c.3359_3360insG NP_001394613.1:p.Val1120_Asn1121insTer frameshift NM_001407685.1:c.3233_3234insG NP_001394614.1:p.Val1078_Asn1079insTer frameshift NM_001407686.1:c.3233_3234insG NP_001394615.1:p.Val1078_Asn1079insTer frameshift NM_001407687.1:c.3233_3234insG NP_001394616.1:p.Val1078_Asn1079insTer frameshift NM_001407688.1:c.3233_3234insG NP_001394617.1:p.Val1078_Asn1079insTer frameshift NM_001407689.1:c.3233_3234insG NP_001394618.1:p.Val1078_Asn1079insTer frameshift NM_001407690.1:c.3233_3234insG NP_001394619.1:p.Val1078_Asn1079insTer frameshift NM_001407691.1:c.3233_3234insG NP_001394620.1:p.Val1078_Asn1079insTer frameshift NM_001407692.1:c.3218_3219insG NP_001394621.1:p.Val1073_Asn1074insTer frameshift NM_001407694.1:c.3218_3219insG NP_001394623.1:p.Val1073_Asn1074insTer frameshift NM_001407695.1:c.3218_3219insG NP_001394624.1:p.Val1073_Asn1074insTer frameshift NM_001407696.1:c.3218_3219insG NP_001394625.1:p.Val1073_Asn1074insTer frameshift NM_001407697.1:c.3218_3219insG NP_001394626.1:p.Val1073_Asn1074insTer frameshift NM_001407698.1:c.3218_3219insG NP_001394627.1:p.Val1073_Asn1074insTer frameshift NM_001407724.1:c.3218_3219insG NP_001394653.1:p.Val1073_Asn1074insTer frameshift NM_001407725.1:c.3218_3219insG NP_001394654.1:p.Val1073_Asn1074insTer frameshift NM_001407726.1:c.3218_3219insG NP_001394655.1:p.Val1073_Asn1074insTer frameshift NM_001407727.1:c.3218_3219insG NP_001394656.1:p.Val1073_Asn1074insTer frameshift NM_001407728.1:c.3218_3219insG NP_001394657.1:p.Val1073_Asn1074insTer frameshift NM_001407729.1:c.3218_3219insG NP_001394658.1:p.Val1073_Asn1074insTer frameshift NM_001407730.1:c.3218_3219insG NP_001394659.1:p.Val1073_Asn1074insTer frameshift NM_001407731.1:c.3218_3219insG NP_001394660.1:p.Val1073_Asn1074insTer frameshift NM_001407732.1:c.3218_3219insG NP_001394661.1:p.Val1073_Asn1074insTer frameshift NM_001407733.1:c.3218_3219insG NP_001394662.1:p.Val1073_Asn1074insTer frameshift NM_001407734.1:c.3218_3219insG NP_001394663.1:p.Val1073_Asn1074insTer frameshift NM_001407735.1:c.3218_3219insG NP_001394664.1:p.Val1073_Asn1074insTer frameshift NM_001407736.1:c.3218_3219insG NP_001394665.1:p.Val1073_Asn1074insTer frameshift NM_001407737.1:c.3218_3219insG NP_001394666.1:p.Val1073_Asn1074insTer frameshift NM_001407738.1:c.3218_3219insG NP_001394667.1:p.Val1073_Asn1074insTer frameshift NM_001407739.1:c.3218_3219insG NP_001394668.1:p.Val1073_Asn1074insTer frameshift NM_001407740.1:c.3215_3216insG NP_001394669.1:p.Val1072_Asn1073insTer frameshift NM_001407741.1:c.3215_3216insG NP_001394670.1:p.Val1072_Asn1073insTer frameshift NM_001407742.1:c.3215_3216insG NP_001394671.1:p.Val1072_Asn1073insTer frameshift NM_001407743.1:c.3215_3216insG NP_001394672.1:p.Val1072_Asn1073insTer frameshift NM_001407744.1:c.3215_3216insG NP_001394673.1:p.Val1072_Asn1073insTer frameshift NM_001407745.1:c.3215_3216insG NP_001394674.1:p.Val1072_Asn1073insTer frameshift NM_001407746.1:c.3215_3216insG NP_001394675.1:p.Val1072_Asn1073insTer frameshift NM_001407747.1:c.3215_3216insG NP_001394676.1:p.Val1072_Asn1073insTer frameshift NM_001407748.1:c.3215_3216insG NP_001394677.1:p.Val1072_Asn1073insTer frameshift NM_001407749.1:c.3215_3216insG NP_001394678.1:p.Val1072_Asn1073insTer frameshift NM_001407750.1:c.3218_3219insG NP_001394679.1:p.Val1073_Asn1074insTer frameshift NM_001407751.1:c.3218_3219insG NP_001394680.1:p.Val1073_Asn1074insTer frameshift NM_001407752.1:c.3218_3219insG NP_001394681.1:p.Val1073_Asn1074insTer frameshift NM_001407838.1:c.3215_3216insG NP_001394767.1:p.Val1072_Asn1073insTer frameshift NM_001407839.1:c.3215_3216insG NP_001394768.1:p.Val1072_Asn1073insTer frameshift NM_001407841.1:c.3215_3216insG NP_001394770.1:p.Val1072_Asn1073insTer frameshift NM_001407842.1:c.3215_3216insG NP_001394771.1:p.Val1072_Asn1073insTer frameshift NM_001407843.1:c.3215_3216insG NP_001394772.1:p.Val1072_Asn1073insTer frameshift NM_001407844.1:c.3215_3216insG NP_001394773.1:p.Val1072_Asn1073insTer frameshift NM_001407845.1:c.3215_3216insG NP_001394774.1:p.Val1072_Asn1073insTer frameshift NM_001407846.1:c.3215_3216insG NP_001394775.1:p.Val1072_Asn1073insTer frameshift NM_001407847.1:c.3215_3216insG NP_001394776.1:p.Val1072_Asn1073insTer frameshift NM_001407848.1:c.3215_3216insG NP_001394777.1:p.Val1072_Asn1073insTer frameshift NM_001407849.1:c.3215_3216insG NP_001394778.1:p.Val1072_Asn1073insTer frameshift NM_001407850.1:c.3218_3219insG NP_001394779.1:p.Val1073_Asn1074insTer frameshift NM_001407851.1:c.3218_3219insG NP_001394780.1:p.Val1073_Asn1074insTer frameshift NM_001407852.1:c.3218_3219insG NP_001394781.1:p.Val1073_Asn1074insTer frameshift NM_001407853.1:c.3146_3147insG NP_001394782.1:p.Val1049_Asn1050insTer frameshift NM_001407854.1:c.3359_3360insG NP_001394783.1:p.Val1120_Asn1121insTer frameshift NM_001407858.1:c.3359_3360insG NP_001394787.1:p.Val1120_Asn1121insTer frameshift NM_001407859.1:c.3359_3360insG NP_001394788.1:p.Val1120_Asn1121insTer frameshift NM_001407860.1:c.3356_3357insG NP_001394789.1:p.Val1119_Asn1120insTer frameshift NM_001407861.1:c.3356_3357insG NP_001394790.1:p.Val1119_Asn1120insTer frameshift NM_001407862.1:c.3158_3159insG NP_001394791.1:p.Val1053_Asn1054insTer frameshift NM_001407863.1:c.3236_3237insG NP_001394792.1:p.Val1079_Asn1080insTer frameshift NM_001407874.1:c.3155_3156insG NP_001394803.1:p.Val1052_Asn1053insTer frameshift NM_001407875.1:c.3155_3156insG NP_001394804.1:p.Val1052_Asn1053insTer frameshift NM_001407879.1:c.3149_3150insG NP_001394808.1:p.Val1050_Asn1051insTer frameshift NM_001407881.1:c.3149_3150insG NP_001394810.1:p.Val1050_Asn1051insTer frameshift NM_001407882.1:c.3149_3150insG NP_001394811.1:p.Val1050_Asn1051insTer frameshift NM_001407884.1:c.3149_3150insG NP_001394813.1:p.Val1050_Asn1051insTer frameshift NM_001407885.1:c.3149_3150insG NP_001394814.1:p.Val1050_Asn1051insTer frameshift NM_001407886.1:c.3149_3150insG NP_001394815.1:p.Val1050_Asn1051insTer frameshift NM_001407887.1:c.3149_3150insG NP_001394816.1:p.Val1050_Asn1051insTer frameshift NM_001407889.1:c.3149_3150insG NP_001394818.1:p.Val1050_Asn1051insTer frameshift NM_001407894.1:c.3146_3147insG NP_001394823.1:p.Val1049_Asn1050insTer frameshift NM_001407895.1:c.3146_3147insG NP_001394824.1:p.Val1049_Asn1050insTer frameshift NM_001407896.1:c.3146_3147insG NP_001394825.1:p.Val1049_Asn1050insTer frameshift NM_001407897.1:c.3146_3147insG NP_001394826.1:p.Val1049_Asn1050insTer frameshift NM_001407898.1:c.3146_3147insG NP_001394827.1:p.Val1049_Asn1050insTer frameshift NM_001407899.1:c.3146_3147insG NP_001394828.1:p.Val1049_Asn1050insTer frameshift NM_001407900.1:c.3149_3150insG NP_001394829.1:p.Val1050_Asn1051insTer frameshift NM_001407902.1:c.3149_3150insG NP_001394831.1:p.Val1050_Asn1051insTer frameshift NM_001407904.1:c.3149_3150insG NP_001394833.1:p.Val1050_Asn1051insTer frameshift NM_001407906.1:c.3149_3150insG NP_001394835.1:p.Val1050_Asn1051insTer frameshift NM_001407907.1:c.3149_3150insG NP_001394836.1:p.Val1050_Asn1051insTer frameshift NM_001407908.1:c.3149_3150insG NP_001394837.1:p.Val1050_Asn1051insTer frameshift NM_001407909.1:c.3149_3150insG NP_001394838.1:p.Val1050_Asn1051insTer frameshift NM_001407910.1:c.3149_3150insG NP_001394839.1:p.Val1050_Asn1051insTer frameshift NM_001407915.1:c.3146_3147insG NP_001394844.1:p.Val1049_Asn1050insTer frameshift NM_001407916.1:c.3146_3147insG NP_001394845.1:p.Val1049_Asn1050insTer frameshift NM_001407917.1:c.3146_3147insG NP_001394846.1:p.Val1049_Asn1050insTer frameshift NM_001407918.1:c.3146_3147insG NP_001394847.1:p.Val1049_Asn1050insTer frameshift NM_001407919.1:c.3236_3237insG NP_001394848.1:p.Val1079_Asn1080insTer frameshift NM_001407920.1:c.3095_3096insG NP_001394849.1:p.Val1032_Asn1033insTer frameshift NM_001407921.1:c.3095_3096insG NP_001394850.1:p.Val1032_Asn1033insTer frameshift NM_001407922.1:c.3095_3096insG NP_001394851.1:p.Val1032_Asn1033insTer frameshift NM_001407923.1:c.3095_3096insG NP_001394852.1:p.Val1032_Asn1033insTer frameshift NM_001407924.1:c.3095_3096insG NP_001394853.1:p.Val1032_Asn1033insTer frameshift NM_001407925.1:c.3095_3096insG NP_001394854.1:p.Val1032_Asn1033insTer frameshift NM_001407926.1:c.3095_3096insG NP_001394855.1:p.Val1032_Asn1033insTer frameshift NM_001407927.1:c.3095_3096insG NP_001394856.1:p.Val1032_Asn1033insTer frameshift NM_001407928.1:c.3095_3096insG NP_001394857.1:p.Val1032_Asn1033insTer frameshift NM_001407929.1:c.3095_3096insG NP_001394858.1:p.Val1032_Asn1033insTer frameshift NM_001407930.1:c.3092_3093insG NP_001394859.1:p.Val1031_Asn1032insTer frameshift NM_001407931.1:c.3092_3093insG NP_001394860.1:p.Val1031_Asn1032insTer frameshift NM_001407932.1:c.3092_3093insG NP_001394861.1:p.Val1031_Asn1032insTer frameshift NM_001407933.1:c.3095_3096insG NP_001394862.1:p.Val1032_Asn1033insTer frameshift NM_001407934.1:c.3092_3093insG NP_001394863.1:p.Val1031_Asn1032insTer frameshift NM_001407935.1:c.3095_3096insG NP_001394864.1:p.Val1032_Asn1033insTer frameshift NM_001407936.1:c.3092_3093insG NP_001394865.1:p.Val1031_Asn1032insTer frameshift NM_001407937.1:c.3236_3237insG NP_001394866.1:p.Val1079_Asn1080insTer frameshift NM_001407938.1:c.3236_3237insG NP_001394867.1:p.Val1079_Asn1080insTer frameshift NM_001407939.1:c.3236_3237insG NP_001394868.1:p.Val1079_Asn1080insTer frameshift NM_001407940.1:c.3233_3234insG NP_001394869.1:p.Val1078_Asn1079insTer frameshift NM_001407941.1:c.3233_3234insG NP_001394870.1:p.Val1078_Asn1079insTer frameshift NM_001407942.1:c.3218_3219insG NP_001394871.1:p.Val1073_Asn1074insTer frameshift NM_001407943.1:c.3215_3216insG NP_001394872.1:p.Val1072_Asn1073insTer frameshift NM_001407944.1:c.3218_3219insG NP_001394873.1:p.Val1073_Asn1074insTer frameshift NM_001407945.1:c.3218_3219insG NP_001394874.1:p.Val1073_Asn1074insTer frameshift NM_001407946.1:c.3026_3027insG NP_001394875.1:p.Val1009_Asn1010insTer frameshift NM_001407947.1:c.3026_3027insG NP_001394876.1:p.Val1009_Asn1010insTer frameshift NM_001407948.1:c.3026_3027insG NP_001394877.1:p.Val1009_Asn1010insTer frameshift NM_001407949.1:c.3026_3027insG NP_001394878.1:p.Val1009_Asn1010insTer frameshift NM_001407950.1:c.3026_3027insG NP_001394879.1:p.Val1009_Asn1010insTer frameshift NM_001407951.1:c.3026_3027insG NP_001394880.1:p.Val1009_Asn1010insTer frameshift NM_001407952.1:c.3026_3027insG NP_001394881.1:p.Val1009_Asn1010insTer frameshift NM_001407953.1:c.3026_3027insG NP_001394882.1:p.Val1009_Asn1010insTer frameshift NM_001407954.1:c.3023_3024insG NP_001394883.1:p.Val1008_Asn1009insTer frameshift NM_001407955.1:c.3023_3024insG NP_001394884.1:p.Val1008_Asn1009insTer frameshift NM_001407956.1:c.3023_3024insG NP_001394885.1:p.Val1008_Asn1009insTer frameshift NM_001407957.1:c.3026_3027insG NP_001394886.1:p.Val1009_Asn1010insTer frameshift NM_001407958.1:c.3023_3024insG NP_001394887.1:p.Val1008_Asn1009insTer frameshift NM_001407959.1:c.2978_2979insG NP_001394888.1:p.Val993_Asn994insTer frameshift NM_001407960.1:c.2978_2979insG NP_001394889.1:p.Val993_Asn994insTer frameshift NM_001407962.1:c.2975_2976insG NP_001394891.1:p.Val992_Asn993insTer frameshift NM_001407963.1:c.2978_2979insG NP_001394892.1:p.Val993_Asn994insTer frameshift NM_001407964.1:c.3215_3216insG NP_001394893.1:p.Val1072_Asn1073insTer frameshift NM_001407965.1:c.2855_2856insG NP_001394894.1:p.Val952_Asn953insTer frameshift NM_001407966.1:c.2471_2472insG NP_001394895.1:p.Val824_Asn825insTer frameshift NM_001407967.1:c.2471_2472insG NP_001394896.1:p.Val824_Asn825insTer frameshift NM_001407968.1:c.788-33_788-32insG intron variant NM_001407969.1:c.788-33_788-32insG intron variant NM_001407970.1:c.788-1140_788-1139insG intron variant NM_001407971.1:c.788-1140_788-1139insG intron variant NM_001407972.1:c.785-1140_785-1139insG intron variant NM_001407973.1:c.788-1140_788-1139insG intron variant NM_001407974.1:c.788-1140_788-1139insG intron variant NM_001407975.1:c.788-1140_788-1139insG intron variant NM_001407976.1:c.788-1140_788-1139insG intron variant NM_001407977.1:c.788-1140_788-1139insG intron variant NM_001407978.1:c.788-1140_788-1139insG intron variant NM_001407979.1:c.788-1140_788-1139insG intron variant NM_001407980.1:c.788-1140_788-1139insG intron variant NM_001407981.1:c.788-1140_788-1139insG intron variant NM_001407982.1:c.788-1140_788-1139insG intron variant NM_001407983.1:c.788-1140_788-1139insG intron variant NM_001407984.1:c.785-1140_785-1139insG intron variant NM_001407985.1:c.785-1140_785-1139insG intron variant NM_001407986.1:c.785-1140_785-1139insG intron variant NM_001407990.1:c.788-1140_788-1139insG intron variant NM_001407991.1:c.785-1140_785-1139insG intron variant NM_001407992.1:c.785-1140_785-1139insG intron variant NM_001407993.1:c.788-1140_788-1139insG intron variant NM_001408392.1:c.785-1140_785-1139insG intron variant NM_001408396.1:c.785-1140_785-1139insG intron variant NM_001408397.1:c.785-1140_785-1139insG intron variant NM_001408398.1:c.785-1140_785-1139insG intron variant NM_001408399.1:c.785-1140_785-1139insG intron variant NM_001408400.1:c.785-1140_785-1139insG intron variant NM_001408401.1:c.785-1140_785-1139insG intron variant NM_001408402.1:c.785-1140_785-1139insG intron variant NM_001408403.1:c.788-1140_788-1139insG intron variant NM_001408404.1:c.788-1140_788-1139insG intron variant NM_001408406.1:c.791-1149_791-1148insG intron variant NM_001408407.1:c.785-1140_785-1139insG intron variant NM_001408408.1:c.779-1140_779-1139insG intron variant NM_001408409.1:c.710-1140_710-1139insG intron variant NM_001408410.1:c.647-1140_647-1139insG intron variant NM_001408411.1:c.710-1140_710-1139insG intron variant NM_001408412.1:c.710-1140_710-1139insG intron variant NM_001408413.1:c.707-1140_707-1139insG intron variant NM_001408414.1:c.710-1140_710-1139insG intron variant NM_001408415.1:c.710-1140_710-1139insG intron variant NM_001408416.1:c.707-1140_707-1139insG intron variant NM_001408418.1:c.671-1140_671-1139insG intron variant NM_001408419.1:c.671-1140_671-1139insG intron variant NM_001408420.1:c.671-1140_671-1139insG intron variant NM_001408421.1:c.668-1140_668-1139insG intron variant NM_001408422.1:c.671-1140_671-1139insG intron variant NM_001408423.1:c.671-1140_671-1139insG intron variant NM_001408424.1:c.668-1140_668-1139insG intron variant NM_001408425.1:c.665-1140_665-1139insG intron variant NM_001408426.1:c.665-1140_665-1139insG intron variant NM_001408427.1:c.665-1140_665-1139insG intron variant NM_001408428.1:c.665-1140_665-1139insG intron variant NM_001408429.1:c.665-1140_665-1139insG intron variant NM_001408430.1:c.665-1140_665-1139insG intron variant NM_001408431.1:c.668-1140_668-1139insG intron variant NM_001408432.1:c.662-1140_662-1139insG intron variant NM_001408433.1:c.662-1140_662-1139insG intron variant NM_001408434.1:c.662-1140_662-1139insG intron variant NM_001408435.1:c.662-1140_662-1139insG intron variant NM_001408436.1:c.665-1140_665-1139insG intron variant NM_001408437.1:c.665-1140_665-1139insG intron variant NM_001408438.1:c.665-1140_665-1139insG intron variant NM_001408439.1:c.665-1140_665-1139insG intron variant NM_001408440.1:c.665-1140_665-1139insG intron variant NM_001408441.1:c.665-1140_665-1139insG intron variant NM_001408442.1:c.665-1140_665-1139insG intron variant NM_001408443.1:c.665-1140_665-1139insG intron variant NM_001408444.1:c.665-1140_665-1139insG intron variant NM_001408445.1:c.662-1140_662-1139insG intron variant NM_001408446.1:c.662-1140_662-1139insG intron variant NM_001408447.1:c.662-1140_662-1139insG intron variant NM_001408448.1:c.662-1140_662-1139insG intron variant NM_001408450.1:c.662-1140_662-1139insG intron variant NM_001408451.1:c.653-1140_653-1139insG intron variant NM_001408452.1:c.647-1140_647-1139insG intron variant NM_001408453.1:c.647-1140_647-1139insG intron variant NM_001408454.1:c.647-1140_647-1139insG intron variant NM_001408455.1:c.647-1140_647-1139insG intron variant NM_001408456.1:c.647-1140_647-1139insG intron variant NM_001408457.1:c.647-1140_647-1139insG intron variant NM_001408458.1:c.647-1140_647-1139insG intron variant NM_001408459.1:c.647-1140_647-1139insG intron variant NM_001408460.1:c.647-1140_647-1139insG intron variant NM_001408461.1:c.647-1140_647-1139insG intron variant NM_001408462.1:c.644-1140_644-1139insG intron variant NM_001408463.1:c.644-1140_644-1139insG intron variant NM_001408464.1:c.644-1140_644-1139insG intron variant NM_001408465.1:c.644-1140_644-1139insG intron variant NM_001408466.1:c.647-1140_647-1139insG intron variant NM_001408467.1:c.647-1140_647-1139insG intron variant NM_001408468.1:c.644-1140_644-1139insG intron variant NM_001408469.1:c.647-1140_647-1139insG intron variant NM_001408470.1:c.644-1140_644-1139insG intron variant NM_001408472.1:c.788-1140_788-1139insG intron variant NM_001408473.1:c.785-1140_785-1139insG intron variant NM_001408474.1:c.587-1140_587-1139insG intron variant NM_001408475.1:c.584-1140_584-1139insG intron variant NM_001408476.1:c.587-1140_587-1139insG intron variant NM_001408478.1:c.578-1140_578-1139insG intron variant NM_001408479.1:c.578-1140_578-1139insG intron variant NM_001408480.1:c.578-1140_578-1139insG intron variant NM_001408481.1:c.578-1140_578-1139insG intron variant NM_001408482.1:c.578-1140_578-1139insG intron variant NM_001408483.1:c.578-1140_578-1139insG intron variant NM_001408484.1:c.578-1140_578-1139insG intron variant NM_001408485.1:c.578-1140_578-1139insG intron variant NM_001408489.1:c.578-1140_578-1139insG intron variant NM_001408490.1:c.575-1140_575-1139insG intron variant NM_001408491.1:c.575-1140_575-1139insG intron variant NM_001408492.1:c.578-1140_578-1139insG intron variant NM_001408493.1:c.575-1140_575-1139insG intron variant NM_001408494.1:c.548-1140_548-1139insG intron variant NM_001408495.1:c.545-1140_545-1139insG intron variant NM_001408496.1:c.524-1140_524-1139insG intron variant NM_001408497.1:c.524-1140_524-1139insG intron variant NM_001408498.1:c.524-1140_524-1139insG intron variant NM_001408499.1:c.524-1140_524-1139insG intron variant NM_001408500.1:c.524-1140_524-1139insG intron variant NM_001408501.1:c.524-1140_524-1139insG intron variant NM_001408502.1:c.455-1140_455-1139insG intron variant NM_001408503.1:c.521-1140_521-1139insG intron variant NM_001408504.1:c.521-1140_521-1139insG intron variant NM_001408505.1:c.521-1140_521-1139insG intron variant NM_001408506.1:c.461-1140_461-1139insG intron variant NM_001408507.1:c.461-1140_461-1139insG intron variant NM_001408508.1:c.452-1140_452-1139insG intron variant NM_001408509.1:c.452-1140_452-1139insG intron variant NM_001408510.1:c.407-1140_407-1139insG intron variant NM_001408511.1:c.404-1140_404-1139insG intron variant NM_001408512.1:c.284-1140_284-1139insG intron variant NM_001408513.1:c.578-1140_578-1139insG intron variant NM_001408514.1:c.578-1140_578-1139insG intron variant NM_007297.4:c.3218_3219insG NP_009228.2:p.Val1073_Asn1074insTer frameshift NM_007298.4:c.788-1140_788-1139insG intron variant NM_007299.4:c.788-1140_788-1139insG intron variant NM_007300.4:c.3359_3360insG NP_009231.2:p.Val1120_Asn1121insTer frameshift NR_027676.1:n.3495_3496insG NC_000017.11:g.43092171_43092172insC NC_000017.10:g.41244188_41244189insC NG_005905.2:g.125812_125813insG NG_087068.1:g.1153_1154insC LRG_292:g.125812_125813insG LRG_292t1:c.3359_3360insG LRG_292p1:p.Asn1121Terfs - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43092171::C
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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 |
12879 | 14664 | |
LOC126862571 | - | - | - | GRCh38 | - | 1637 |
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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Likely pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2021 | RCV001528196.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 9, 2021 | RCV001873732.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 17, 2020 | RCV002324127.2 |
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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Likely pathogenic
(Jan 01, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center
Accession: SCV001739437.1
First in ClinVar: Jul 07, 2021 Last updated: Jul 07, 2021 |
Number of individuals with the variant: 1
Age: 30-39 years
Sex: female
Ethnicity/Population group: Latin American
Geographic origin: Lima, Peru
|
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Pathogenic
(Apr 09, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV002179712.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This … (more)
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn1121*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
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Pathogenic
(Sep 17, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002607183.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.3359_3360insG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from an insertion of one nucleotide at position 3359, causing a … (more)
The c.3359_3360insG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from an insertion of one nucleotide at position 3359, causing a translational frameshift with a predicted alternate stop codon (p.N1121*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
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 rs2154323689 ...
HelpRecord last updated May 01, 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.