Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer)
Variation ID: 55021 Accession: VCV000055021.15
- Type and length
-
Indel, 5 bp
- Location
-
Cytogenetic: 17q21.31 17: 43091688-43091692 (GRCh38) [ NCBI UCSC ] 17: 41243705-41243709 (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 Apr 1, 2014 May 1, 2024 Oct 18, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3839_3843delinsAGGC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407571.1:c.3626_3630delinsAGGC NP_001394500.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407581.1:c.3839_3843delinsAGGC NP_001394510.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407582.1:c.3839_3843delinsAGGC NP_001394511.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407583.1:c.3839_3843delinsAGGC NP_001394512.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407585.1:c.3839_3843delinsAGGC NP_001394514.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407587.1:c.3836_3840delinsAGGC NP_001394516.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407590.1:c.3836_3840delinsAGGC NP_001394519.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407591.1:c.3836_3840delinsAGGC NP_001394520.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407593.1:c.3839_3843delinsAGGC NP_001394522.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407594.1:c.3839_3843delinsAGGC NP_001394523.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407596.1:c.3839_3843delinsAGGC NP_001394525.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407597.1:c.3839_3843delinsAGGC NP_001394526.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407598.1:c.3839_3843delinsAGGC NP_001394527.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407602.1:c.3839_3843delinsAGGC NP_001394531.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407603.1:c.3839_3843delinsAGGC NP_001394532.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407605.1:c.3839_3843delinsAGGC NP_001394534.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407610.1:c.3836_3840delinsAGGC NP_001394539.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407611.1:c.3836_3840delinsAGGC NP_001394540.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407612.1:c.3836_3840delinsAGGC NP_001394541.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407613.1:c.3836_3840delinsAGGC NP_001394542.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407614.1:c.3836_3840delinsAGGC NP_001394543.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407615.1:c.3836_3840delinsAGGC NP_001394544.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407616.1:c.3839_3843delinsAGGC NP_001394545.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407617.1:c.3839_3843delinsAGGC NP_001394546.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407618.1:c.3839_3843delinsAGGC NP_001394547.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407619.1:c.3839_3843delinsAGGC NP_001394548.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407620.1:c.3839_3843delinsAGGC NP_001394549.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407621.1:c.3839_3843delinsAGGC NP_001394550.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407622.1:c.3839_3843delinsAGGC NP_001394551.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407623.1:c.3839_3843delinsAGGC NP_001394552.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407624.1:c.3839_3843delinsAGGC NP_001394553.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407625.1:c.3839_3843delinsAGGC NP_001394554.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407626.1:c.3839_3843delinsAGGC NP_001394555.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407627.1:c.3836_3840delinsAGGC NP_001394556.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407628.1:c.3836_3840delinsAGGC NP_001394557.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407629.1:c.3836_3840delinsAGGC NP_001394558.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407630.1:c.3836_3840delinsAGGC NP_001394559.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407631.1:c.3836_3840delinsAGGC NP_001394560.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407632.1:c.3836_3840delinsAGGC NP_001394561.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407633.1:c.3836_3840delinsAGGC NP_001394562.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407634.1:c.3836_3840delinsAGGC NP_001394563.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407635.1:c.3836_3840delinsAGGC NP_001394564.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407636.1:c.3836_3840delinsAGGC NP_001394565.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407637.1:c.3836_3840delinsAGGC NP_001394566.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407638.1:c.3836_3840delinsAGGC NP_001394567.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407639.1:c.3839_3843delinsAGGC NP_001394568.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407640.1:c.3839_3843delinsAGGC NP_001394569.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407641.1:c.3839_3843delinsAGGC NP_001394570.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407642.1:c.3839_3843delinsAGGC NP_001394571.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407644.1:c.3836_3840delinsAGGC NP_001394573.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407645.1:c.3836_3840delinsAGGC NP_001394574.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407646.1:c.3830_3834delinsAGGC NP_001394575.1:p.Ser1277_Gln1278delinsTer nonsense NM_001407647.1:c.3830_3834delinsAGGC NP_001394576.1:p.Ser1277_Gln1278delinsTer nonsense NM_001407648.1:c.3716_3720delinsAGGC NP_001394577.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407649.1:c.3713_3717delinsAGGC NP_001394578.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407652.1:c.3839_3843delinsAGGC NP_001394581.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407653.1:c.3761_3765delinsAGGC NP_001394582.1:p.Ser1254_Gln1255delinsTer nonsense NM_001407654.1:c.3761_3765delinsAGGC NP_001394583.1:p.Ser1254_Gln1255delinsTer nonsense NM_001407655.1:c.3761_3765delinsAGGC NP_001394584.1:p.Ser1254_Gln1255delinsTer nonsense NM_001407656.1:c.3761_3765delinsAGGC NP_001394585.1:p.Ser1254_Gln1255delinsTer nonsense NM_001407657.1:c.3761_3765delinsAGGC NP_001394586.1:p.Ser1254_Gln1255delinsTer nonsense NM_001407658.1:c.3761_3765delinsAGGC NP_001394587.1:p.Ser1254_Gln1255delinsTer nonsense NM_001407659.1:c.3758_3762delinsAGGC NP_001394588.1:p.Ser1253_Gln1254delinsTer nonsense NM_001407660.1:c.3758_3762delinsAGGC NP_001394589.1:p.Ser1253_Gln1254delinsTer nonsense NM_001407661.1:c.3758_3762delinsAGGC NP_001394590.1:p.Ser1253_Gln1254delinsTer nonsense NM_001407662.1:c.3758_3762delinsAGGC NP_001394591.1:p.Ser1253_Gln1254delinsTer nonsense NM_001407663.1:c.3761_3765delinsAGGC NP_001394592.1:p.Ser1254_Gln1255delinsTer nonsense NM_001407664.1:c.3716_3720delinsAGGC NP_001394593.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407665.1:c.3716_3720delinsAGGC NP_001394594.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407666.1:c.3716_3720delinsAGGC NP_001394595.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407667.1:c.3716_3720delinsAGGC NP_001394596.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407668.1:c.3716_3720delinsAGGC NP_001394597.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407669.1:c.3716_3720delinsAGGC NP_001394598.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407670.1:c.3713_3717delinsAGGC NP_001394599.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407671.1:c.3713_3717delinsAGGC NP_001394600.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407672.1:c.3713_3717delinsAGGC NP_001394601.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407673.1:c.3713_3717delinsAGGC NP_001394602.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407674.1:c.3716_3720delinsAGGC NP_001394603.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407675.1:c.3716_3720delinsAGGC NP_001394604.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407676.1:c.3716_3720delinsAGGC NP_001394605.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407677.1:c.3716_3720delinsAGGC NP_001394606.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407678.1:c.3716_3720delinsAGGC NP_001394607.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407679.1:c.3716_3720delinsAGGC NP_001394608.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407680.1:c.3716_3720delinsAGGC NP_001394609.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407681.1:c.3716_3720delinsAGGC NP_001394610.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407682.1:c.3716_3720delinsAGGC NP_001394611.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407683.1:c.3716_3720delinsAGGC NP_001394612.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407684.1:c.3839_3843delinsAGGC NP_001394613.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407685.1:c.3713_3717delinsAGGC NP_001394614.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407686.1:c.3713_3717delinsAGGC NP_001394615.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407687.1:c.3713_3717delinsAGGC NP_001394616.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407688.1:c.3713_3717delinsAGGC NP_001394617.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407689.1:c.3713_3717delinsAGGC NP_001394618.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407690.1:c.3713_3717delinsAGGC NP_001394619.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407691.1:c.3713_3717delinsAGGC NP_001394620.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407692.1:c.3698_3702delinsAGGC NP_001394621.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407694.1:c.3698_3702delinsAGGC NP_001394623.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407695.1:c.3698_3702delinsAGGC NP_001394624.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407696.1:c.3698_3702delinsAGGC NP_001394625.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407697.1:c.3698_3702delinsAGGC NP_001394626.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407698.1:c.3698_3702delinsAGGC NP_001394627.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407724.1:c.3698_3702delinsAGGC NP_001394653.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407725.1:c.3698_3702delinsAGGC NP_001394654.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407726.1:c.3698_3702delinsAGGC NP_001394655.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407727.1:c.3698_3702delinsAGGC NP_001394656.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407728.1:c.3698_3702delinsAGGC NP_001394657.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407729.1:c.3698_3702delinsAGGC NP_001394658.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407730.1:c.3698_3702delinsAGGC NP_001394659.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407731.1:c.3698_3702delinsAGGC NP_001394660.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407732.1:c.3698_3702delinsAGGC NP_001394661.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407733.1:c.3698_3702delinsAGGC NP_001394662.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407734.1:c.3698_3702delinsAGGC NP_001394663.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407735.1:c.3698_3702delinsAGGC NP_001394664.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407736.1:c.3698_3702delinsAGGC NP_001394665.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407737.1:c.3698_3702delinsAGGC NP_001394666.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407738.1:c.3698_3702delinsAGGC NP_001394667.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407739.1:c.3698_3702delinsAGGC NP_001394668.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407740.1:c.3695_3699delinsAGGC NP_001394669.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407741.1:c.3695_3699delinsAGGC NP_001394670.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407742.1:c.3695_3699delinsAGGC NP_001394671.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407743.1:c.3695_3699delinsAGGC NP_001394672.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407744.1:c.3695_3699delinsAGGC NP_001394673.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407745.1:c.3695_3699delinsAGGC NP_001394674.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407746.1:c.3695_3699delinsAGGC NP_001394675.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407747.1:c.3695_3699delinsAGGC NP_001394676.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407748.1:c.3695_3699delinsAGGC NP_001394677.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407749.1:c.3695_3699delinsAGGC NP_001394678.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407750.1:c.3698_3702delinsAGGC NP_001394679.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407751.1:c.3698_3702delinsAGGC NP_001394680.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407752.1:c.3698_3702delinsAGGC NP_001394681.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407838.1:c.3695_3699delinsAGGC NP_001394767.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407839.1:c.3695_3699delinsAGGC NP_001394768.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407841.1:c.3695_3699delinsAGGC NP_001394770.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407842.1:c.3695_3699delinsAGGC NP_001394771.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407843.1:c.3695_3699delinsAGGC NP_001394772.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407844.1:c.3695_3699delinsAGGC NP_001394773.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407845.1:c.3695_3699delinsAGGC NP_001394774.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407846.1:c.3695_3699delinsAGGC NP_001394775.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407847.1:c.3695_3699delinsAGGC NP_001394776.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407848.1:c.3695_3699delinsAGGC NP_001394777.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407849.1:c.3695_3699delinsAGGC NP_001394778.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407850.1:c.3698_3702delinsAGGC NP_001394779.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407851.1:c.3698_3702delinsAGGC NP_001394780.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407852.1:c.3698_3702delinsAGGC NP_001394781.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407853.1:c.3626_3630delinsAGGC NP_001394782.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407854.1:c.3839_3843delinsAGGC NP_001394783.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407858.1:c.3839_3843delinsAGGC NP_001394787.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407859.1:c.3839_3843delinsAGGC NP_001394788.1:p.Ser1280_Gln1281delinsTer nonsense NM_001407860.1:c.3836_3840delinsAGGC NP_001394789.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407861.1:c.3836_3840delinsAGGC NP_001394790.1:p.Ser1279_Gln1280delinsTer nonsense NM_001407862.1:c.3638_3642delinsAGGC NP_001394791.1:p.Ser1213_Gln1214delinsTer nonsense NM_001407863.1:c.3716_3720delinsAGGC NP_001394792.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407874.1:c.3635_3639delinsAGGC NP_001394803.1:p.Ser1212_Gln1213delinsTer nonsense NM_001407875.1:c.3635_3639delinsAGGC NP_001394804.1:p.Ser1212_Gln1213delinsTer nonsense NM_001407879.1:c.3629_3633delinsAGGC NP_001394808.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407881.1:c.3629_3633delinsAGGC NP_001394810.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407882.1:c.3629_3633delinsAGGC NP_001394811.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407884.1:c.3629_3633delinsAGGC NP_001394813.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407885.1:c.3629_3633delinsAGGC NP_001394814.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407886.1:c.3629_3633delinsAGGC NP_001394815.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407887.1:c.3629_3633delinsAGGC NP_001394816.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407889.1:c.3629_3633delinsAGGC NP_001394818.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407894.1:c.3626_3630delinsAGGC NP_001394823.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407895.1:c.3626_3630delinsAGGC NP_001394824.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407896.1:c.3626_3630delinsAGGC NP_001394825.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407897.1:c.3626_3630delinsAGGC NP_001394826.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407898.1:c.3626_3630delinsAGGC NP_001394827.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407899.1:c.3626_3630delinsAGGC NP_001394828.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407900.1:c.3629_3633delinsAGGC NP_001394829.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407902.1:c.3629_3633delinsAGGC NP_001394831.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407904.1:c.3629_3633delinsAGGC NP_001394833.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407906.1:c.3629_3633delinsAGGC NP_001394835.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407907.1:c.3629_3633delinsAGGC NP_001394836.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407908.1:c.3629_3633delinsAGGC NP_001394837.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407909.1:c.3629_3633delinsAGGC NP_001394838.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407910.1:c.3629_3633delinsAGGC NP_001394839.1:p.Ser1210_Gln1211delinsTer nonsense NM_001407915.1:c.3626_3630delinsAGGC NP_001394844.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407916.1:c.3626_3630delinsAGGC NP_001394845.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407917.1:c.3626_3630delinsAGGC NP_001394846.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407918.1:c.3626_3630delinsAGGC NP_001394847.1:p.Ser1209_Gln1210delinsTer nonsense NM_001407919.1:c.3716_3720delinsAGGC NP_001394848.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407920.1:c.3575_3579delinsAGGC NP_001394849.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407921.1:c.3575_3579delinsAGGC NP_001394850.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407922.1:c.3575_3579delinsAGGC NP_001394851.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407923.1:c.3575_3579delinsAGGC NP_001394852.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407924.1:c.3575_3579delinsAGGC NP_001394853.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407925.1:c.3575_3579delinsAGGC NP_001394854.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407926.1:c.3575_3579delinsAGGC NP_001394855.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407927.1:c.3575_3579delinsAGGC NP_001394856.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407928.1:c.3575_3579delinsAGGC NP_001394857.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407929.1:c.3575_3579delinsAGGC NP_001394858.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407930.1:c.3572_3576delinsAGGC NP_001394859.1:p.Ser1191_Gln1192delinsTer nonsense NM_001407931.1:c.3572_3576delinsAGGC NP_001394860.1:p.Ser1191_Gln1192delinsTer nonsense NM_001407932.1:c.3572_3576delinsAGGC NP_001394861.1:p.Ser1191_Gln1192delinsTer nonsense NM_001407933.1:c.3575_3579delinsAGGC NP_001394862.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407934.1:c.3572_3576delinsAGGC NP_001394863.1:p.Ser1191_Gln1192delinsTer nonsense NM_001407935.1:c.3575_3579delinsAGGC NP_001394864.1:p.Ser1192_Gln1193delinsTer nonsense NM_001407936.1:c.3572_3576delinsAGGC NP_001394865.1:p.Ser1191_Gln1192delinsTer nonsense NM_001407937.1:c.3716_3720delinsAGGC NP_001394866.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407938.1:c.3716_3720delinsAGGC NP_001394867.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407939.1:c.3716_3720delinsAGGC NP_001394868.1:p.Ser1239_Gln1240delinsTer nonsense NM_001407940.1:c.3713_3717delinsAGGC NP_001394869.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407941.1:c.3713_3717delinsAGGC NP_001394870.1:p.Ser1238_Gln1239delinsTer nonsense NM_001407942.1:c.3698_3702delinsAGGC NP_001394871.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407943.1:c.3695_3699delinsAGGC NP_001394872.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407944.1:c.3698_3702delinsAGGC NP_001394873.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407945.1:c.3698_3702delinsAGGC NP_001394874.1:p.Ser1233_Gln1234delinsTer nonsense NM_001407946.1:c.3506_3510delinsAGGC NP_001394875.1:p.Ser1169_Gln1170delinsTer nonsense NM_001407947.1:c.3506_3510delinsAGGC NP_001394876.1:p.Ser1169_Gln1170delinsTer nonsense NM_001407948.1:c.3506_3510delinsAGGC NP_001394877.1:p.Ser1169_Gln1170delinsTer nonsense NM_001407949.1:c.3506_3510delinsAGGC NP_001394878.1:p.Ser1169_Gln1170delinsTer nonsense NM_001407950.1:c.3506_3510delinsAGGC NP_001394879.1:p.Ser1169_Gln1170delinsTer nonsense NM_001407951.1:c.3506_3510delinsAGGC NP_001394880.1:p.Ser1169_Gln1170delinsTer nonsense NM_001407952.1:c.3506_3510delinsAGGC NP_001394881.1:p.Ser1169_Gln1170delinsTer nonsense NM_001407953.1:c.3506_3510delinsAGGC NP_001394882.1:p.Ser1169_Gln1170delinsTer nonsense NM_001407954.1:c.3503_3507delinsAGGC NP_001394883.1:p.Ser1168_Gln1169delinsTer nonsense NM_001407955.1:c.3503_3507delinsAGGC NP_001394884.1:p.Ser1168_Gln1169delinsTer nonsense NM_001407956.1:c.3503_3507delinsAGGC NP_001394885.1:p.Ser1168_Gln1169delinsTer nonsense NM_001407957.1:c.3506_3510delinsAGGC NP_001394886.1:p.Ser1169_Gln1170delinsTer nonsense NM_001407958.1:c.3503_3507delinsAGGC NP_001394887.1:p.Ser1168_Gln1169delinsTer nonsense NM_001407959.1:c.3458_3462delinsAGGC NP_001394888.1:p.Ser1153_Gln1154delinsTer nonsense NM_001407960.1:c.3458_3462delinsAGGC NP_001394889.1:p.Ser1153_Gln1154delinsTer nonsense NM_001407962.1:c.3455_3459delinsAGGC NP_001394891.1:p.Ser1152_Gln1153delinsTer nonsense NM_001407963.1:c.3458_3462delinsAGGC NP_001394892.1:p.Ser1153_Gln1154delinsTer nonsense NM_001407964.1:c.3695_3699delinsAGGC NP_001394893.1:p.Ser1232_Gln1233delinsTer nonsense NM_001407965.1:c.3335_3339delinsAGGC NP_001394894.1:p.Ser1112_Gln1113delinsTer nonsense NM_001407966.1:c.2951_2955delinsAGGC NP_001394895.1:p.Ser984_Gln985delinsTer nonsense NM_001407967.1:c.2951_2955delinsAGGC NP_001394896.1:p.Ser984_Gln985delinsTer nonsense NM_001407968.1:c.1235_1239delinsAGGC NP_001394897.1:p.Ser412_Gln413delinsTer nonsense NM_001407969.1:c.1235_1239delinsAGGC NP_001394898.1:p.Ser412_Gln413delinsTer nonsense NM_001407970.1:c.788-660_788-656delinsAGGC intron variant NM_001407971.1:c.788-660_788-656delinsAGGC intron variant NM_001407972.1:c.785-660_785-656delinsAGGC intron variant NM_001407973.1:c.788-660_788-656delinsAGGC intron variant NM_001407974.1:c.788-660_788-656delinsAGGC intron variant NM_001407975.1:c.788-660_788-656delinsAGGC intron variant NM_001407976.1:c.788-660_788-656delinsAGGC intron variant NM_001407977.1:c.788-660_788-656delinsAGGC intron variant NM_001407978.1:c.788-660_788-656delinsAGGC intron variant NM_001407979.1:c.788-660_788-656delinsAGGC intron variant NM_001407980.1:c.788-660_788-656delinsAGGC intron variant NM_001407981.1:c.788-660_788-656delinsAGGC intron variant NM_001407982.1:c.788-660_788-656delinsAGGC intron variant NM_001407983.1:c.788-660_788-656delinsAGGC intron variant NM_001407984.1:c.785-660_785-656delinsAGGC intron variant NM_001407985.1:c.785-660_785-656delinsAGGC intron variant NM_001407986.1:c.785-660_785-656delinsAGGC intron variant NM_001407990.1:c.788-660_788-656delinsAGGC intron variant NM_001407991.1:c.785-660_785-656delinsAGGC intron variant NM_001407992.1:c.785-660_785-656delinsAGGC intron variant NM_001407993.1:c.788-660_788-656delinsAGGC intron variant NM_001408392.1:c.785-660_785-656delinsAGGC intron variant NM_001408396.1:c.785-660_785-656delinsAGGC intron variant NM_001408397.1:c.785-660_785-656delinsAGGC intron variant NM_001408398.1:c.785-660_785-656delinsAGGC intron variant NM_001408399.1:c.785-660_785-656delinsAGGC intron variant NM_001408400.1:c.785-660_785-656delinsAGGC intron variant NM_001408401.1:c.785-660_785-656delinsAGGC intron variant NM_001408402.1:c.785-660_785-656delinsAGGC intron variant NM_001408403.1:c.788-660_788-656delinsAGGC intron variant NM_001408404.1:c.788-660_788-656delinsAGGC intron variant NM_001408406.1:c.791-669_791-665delinsAGGC intron variant NM_001408407.1:c.785-660_785-656delinsAGGC intron variant NM_001408408.1:c.779-660_779-656delinsAGGC intron variant NM_001408409.1:c.710-660_710-656delinsAGGC intron variant NM_001408410.1:c.647-660_647-656delinsAGGC intron variant NM_001408411.1:c.710-660_710-656delinsAGGC intron variant NM_001408412.1:c.710-660_710-656delinsAGGC intron variant NM_001408413.1:c.707-660_707-656delinsAGGC intron variant NM_001408414.1:c.710-660_710-656delinsAGGC intron variant NM_001408415.1:c.710-660_710-656delinsAGGC intron variant NM_001408416.1:c.707-660_707-656delinsAGGC intron variant NM_001408418.1:c.671-660_671-656delinsAGGC intron variant NM_001408419.1:c.671-660_671-656delinsAGGC intron variant NM_001408420.1:c.671-660_671-656delinsAGGC intron variant NM_001408421.1:c.668-660_668-656delinsAGGC intron variant NM_001408422.1:c.671-660_671-656delinsAGGC intron variant NM_001408423.1:c.671-660_671-656delinsAGGC intron variant NM_001408424.1:c.668-660_668-656delinsAGGC intron variant NM_001408425.1:c.665-660_665-656delinsAGGC intron variant NM_001408426.1:c.665-660_665-656delinsAGGC intron variant NM_001408427.1:c.665-660_665-656delinsAGGC intron variant NM_001408428.1:c.665-660_665-656delinsAGGC intron variant NM_001408429.1:c.665-660_665-656delinsAGGC intron variant NM_001408430.1:c.665-660_665-656delinsAGGC intron variant NM_001408431.1:c.668-660_668-656delinsAGGC intron variant NM_001408432.1:c.662-660_662-656delinsAGGC intron variant NM_001408433.1:c.662-660_662-656delinsAGGC intron variant NM_001408434.1:c.662-660_662-656delinsAGGC intron variant NM_001408435.1:c.662-660_662-656delinsAGGC intron variant NM_001408436.1:c.665-660_665-656delinsAGGC intron variant NM_001408437.1:c.665-660_665-656delinsAGGC intron variant NM_001408438.1:c.665-660_665-656delinsAGGC intron variant NM_001408439.1:c.665-660_665-656delinsAGGC intron variant NM_001408440.1:c.665-660_665-656delinsAGGC intron variant NM_001408441.1:c.665-660_665-656delinsAGGC intron variant NM_001408442.1:c.665-660_665-656delinsAGGC intron variant NM_001408443.1:c.665-660_665-656delinsAGGC intron variant NM_001408444.1:c.665-660_665-656delinsAGGC intron variant NM_001408445.1:c.662-660_662-656delinsAGGC intron variant NM_001408446.1:c.662-660_662-656delinsAGGC intron variant NM_001408447.1:c.662-660_662-656delinsAGGC intron variant NM_001408448.1:c.662-660_662-656delinsAGGC intron variant NM_001408450.1:c.662-660_662-656delinsAGGC intron variant NM_001408451.1:c.653-660_653-656delinsAGGC intron variant NM_001408452.1:c.647-660_647-656delinsAGGC intron variant NM_001408453.1:c.647-660_647-656delinsAGGC intron variant NM_001408454.1:c.647-660_647-656delinsAGGC intron variant NM_001408455.1:c.647-660_647-656delinsAGGC intron variant NM_001408456.1:c.647-660_647-656delinsAGGC intron variant NM_001408457.1:c.647-660_647-656delinsAGGC intron variant NM_001408458.1:c.647-660_647-656delinsAGGC intron variant NM_001408459.1:c.647-660_647-656delinsAGGC intron variant NM_001408460.1:c.647-660_647-656delinsAGGC intron variant NM_001408461.1:c.647-660_647-656delinsAGGC intron variant NM_001408462.1:c.644-660_644-656delinsAGGC intron variant NM_001408463.1:c.644-660_644-656delinsAGGC intron variant NM_001408464.1:c.644-660_644-656delinsAGGC intron variant NM_001408465.1:c.644-660_644-656delinsAGGC intron variant NM_001408466.1:c.647-660_647-656delinsAGGC intron variant NM_001408467.1:c.647-660_647-656delinsAGGC intron variant NM_001408468.1:c.644-660_644-656delinsAGGC intron variant NM_001408469.1:c.647-660_647-656delinsAGGC intron variant NM_001408470.1:c.644-660_644-656delinsAGGC intron variant NM_001408472.1:c.788-660_788-656delinsAGGC intron variant NM_001408473.1:c.785-660_785-656delinsAGGC intron variant NM_001408474.1:c.587-660_587-656delinsAGGC intron variant NM_001408475.1:c.584-660_584-656delinsAGGC intron variant NM_001408476.1:c.587-660_587-656delinsAGGC intron variant NM_001408478.1:c.578-660_578-656delinsAGGC intron variant NM_001408479.1:c.578-660_578-656delinsAGGC intron variant NM_001408480.1:c.578-660_578-656delinsAGGC intron variant NM_001408481.1:c.578-660_578-656delinsAGGC intron variant NM_001408482.1:c.578-660_578-656delinsAGGC intron variant NM_001408483.1:c.578-660_578-656delinsAGGC intron variant NM_001408484.1:c.578-660_578-656delinsAGGC intron variant NM_001408485.1:c.578-660_578-656delinsAGGC intron variant NM_001408489.1:c.578-660_578-656delinsAGGC intron variant NM_001408490.1:c.575-660_575-656delinsAGGC intron variant NM_001408491.1:c.575-660_575-656delinsAGGC intron variant NM_001408492.1:c.578-660_578-656delinsAGGC intron variant NM_001408493.1:c.575-660_575-656delinsAGGC intron variant NM_001408494.1:c.548-660_548-656delinsAGGC intron variant NM_001408495.1:c.545-660_545-656delinsAGGC intron variant NM_001408496.1:c.524-660_524-656delinsAGGC intron variant NM_001408497.1:c.524-660_524-656delinsAGGC intron variant NM_001408498.1:c.524-660_524-656delinsAGGC intron variant NM_001408499.1:c.524-660_524-656delinsAGGC intron variant NM_001408500.1:c.524-660_524-656delinsAGGC intron variant NM_001408501.1:c.524-660_524-656delinsAGGC intron variant NM_001408502.1:c.455-660_455-656delinsAGGC intron variant NM_001408503.1:c.521-660_521-656delinsAGGC intron variant NM_001408504.1:c.521-660_521-656delinsAGGC intron variant NM_001408505.1:c.521-660_521-656delinsAGGC intron variant NM_001408506.1:c.461-660_461-656delinsAGGC intron variant NM_001408507.1:c.461-660_461-656delinsAGGC intron variant NM_001408508.1:c.452-660_452-656delinsAGGC intron variant NM_001408509.1:c.452-660_452-656delinsAGGC intron variant NM_001408510.1:c.407-660_407-656delinsAGGC intron variant NM_001408511.1:c.404-660_404-656delinsAGGC intron variant NM_001408512.1:c.284-660_284-656delinsAGGC intron variant NM_001408513.1:c.578-660_578-656delinsAGGC intron variant NM_001408514.1:c.578-660_578-656delinsAGGC intron variant NM_007297.4:c.3698_3702delinsAGGC NP_009228.2:p.Ser1233_Gln1234delinsTer nonsense NM_007298.4:c.788-660_788-656delinsAGGC intron variant NM_007299.4:c.788-660_788-656delinsAGGC intron variant NM_007300.4:c.3839_3843delinsAGGC NP_009231.2:p.Ser1280_Gln1281delinsTer nonsense NR_027676.1:n.3975_3979delCTCAGinsAGGC NC_000017.11:g.43091688_43091692delinsGCCT NC_000017.10:g.41243705_41243709delinsGCCT NG_005905.2:g.126292_126296delinsAGGC NG_087068.1:g.670_674delinsGCCT LRG_292:g.126292_126296delinsAGGC LRG_292t1:c.3839_3843delCTCAGinsAGGC LRG_292p1:p.Ser1280Terfs U14680.1:n.3958_3962delCTCAGinsAGGC - Protein change
- -
- Other names
-
3958del5ins4
3958delCTC/3963insCG-ter1280
- Canonical SPDI
- NC_000017.11:43091687:CTGAG:GCCT
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13040 | 14846 | |
| 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. |
|---|---|---|---|---|
| Pathogenic (3) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000112194.13 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Apr 1, 2021 | RCV000219141.14 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jan 30, 2017 | RCV000508642.10 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Oct 18, 2016)
|
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)
Accession: SCV000323673.2
First in ClinVar: Apr 01, 2014 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Jan 30, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000605855.2
First in ClinVar: Sep 30, 2017 Last updated: Jan 03, 2022 |
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325766.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Apr 01, 2021)
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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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Color Diagnostics, LLC DBA Color Health
Accession: SCV001341173.2
First in ClinVar: Jun 22, 2020 Last updated: Jan 08, 2022 |
Comment:
This variant alters 5 nucleotides in exon 10 in the BRCA1 gene, creating a frameshift and premature translation stop signal. To our knowledge, functional studies … (more)
This variant alters 5 nucleotides in exon 10 in the BRCA1 gene, creating a frameshift and premature translation stop signal. To our knowledge, functional studies have not been reported for this variant. This variant is also known as 3958del5ins4 in the literature, and it has been detected in nearly 50 hereditary breast and ovarian cancer families (PMID: 9799090, 30430080). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Dec 04, 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: SCV000274544.6
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The c.3839_3843delCTCAGinsAGGC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from the deletion of 5 nucleotides and insertion of 4 nucleotides … (more)
The c.3839_3843delCTCAGinsAGGC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from the deletion of 5 nucleotides and insertion of 4 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.S1280*). This pathogenic mutation has been reported in families with hereditary breast and ovarian cancer from all over the world (Presneau N et al. Hum Genet, 1998 Sep;103:334-9; Caputo S et al. Nucleic Acids Res, 2012 Jan;40:D992-1002; Castéra L et al. Eur J Hum Genet, 2014 Nov;22:1305-13; Vega A et al. Ann Hum Genet, 2002 Jan;66:29-36; Lesueur F et al. Front Oncol, 2018 Oct;8:490; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). This alteration is also referred to as 3958del5ins4, 3958_3962delCTCAGinsAGGC, and c.3839_3843delinsAGGC in the literature. 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)
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline,
somatic
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144891.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Spain
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Galician
Geographic origin: Spain
Observation 3:
Number of individuals with the variant: 1
Geographic origin: Spain
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Comment:
Comment:
This variant alters 5 nucleotides in exon 10 in the BRCA1 gene, creating a frameshift and premature translation stop signal. To our knowledge, functional studies have not been reported for this variant. This variant is also known as 3958del5ins4 in the literature, and it has been detected in nearly 50 hereditary breast and ovarian cancer families (PMID: 9799090, 30430080). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The c.3839_3843delCTCAGinsAGGC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from the deletion of 5 nucleotides and insertion of 4 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.S1280*). This pathogenic mutation has been reported in families with hereditary breast and ovarian cancer from all over the world (Presneau N et al. Hum Genet, 1998 Sep;103:334-9; Caputo S et al. Nucleic Acids Res, 2012 Jan;40:D992-1002; Castéra L et al. Eur J Hum Genet, 2014 Nov;22:1305-13; Vega A et al. Ann Hum Genet, 2002 Jan;66:29-36; Lesueur F et al. Front Oncol, 2018 Oct;8:490; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). This alteration is also referred to as 3958del5ins4, 3958_3962delCTCAGinsAGGC, and c.3839_3843delinsAGGC in the literature. 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.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
This variant alters 5 nucleotides in exon 10 in the BRCA1 gene, creating a frameshift and premature translation stop signal. To our knowledge, functional studies have not been reported for this variant. This variant is also known as 3958del5ins4 in the literature, and it has been detected in nearly 50 hereditary breast and ovarian cancer families (PMID: 9799090, 30430080). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The c.3839_3843delCTCAGinsAGGC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from the deletion of 5 nucleotides and insertion of 4 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.S1280*). This pathogenic mutation has been reported in families with hereditary breast and ovarian cancer from all over the world (Presneau N et al. Hum Genet, 1998 Sep;103:334-9; Caputo S et al. Nucleic Acids Res, 2012 Jan;40:D992-1002; Castéra L et al. Eur J Hum Genet, 2014 Nov;22:1305-13; Vega A et al. Ann Hum Genet, 2002 Jan;66:29-36; Lesueur F et al. Front Oncol, 2018 Oct;8:490; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). This alteration is also referred to as 3958del5ins4, 3958_3962delCTCAGinsAGGC, and c.3839_3843delinsAGGC in the literature. 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.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers. | Lesueur F | Frontiers in oncology | 2018 | PMID: 30430080 |
| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
| Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software. | Poulet A | BioMed research international | 2016 | PMID: 27656653 |
| Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. | Castéra L | European journal of human genetics : EJHG | 2014 | PMID: 24549055 |
| Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. | Caputo S | Nucleic acids research | 2012 | PMID: 22144684 |
| Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. | Janavičius R | The EPMA journal | 2010 | PMID: 23199084 |
| Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. | Vega A | Annals of human genetics | 2002 | PMID: 12014998 |
| New mechanism of BRCA-1 mutation by deletion/insertion at the same nucleotide position in three unrelated French breast/ovarian cancer families. | Presneau N | Human genetics | 1998 | PMID: 9799090 |
Text-mined citations for rs273900717 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 03, 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.