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NM_007294.3(BRCA1):c.3357del (p.Val1120fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
3 (Most recent: Oct 28, 2016)
Last evaluated:
Sep 8, 2016
Accession:
VCV000125631.1
Variation ID:
125631
Description:
1bp deletion
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NM_007294.3(BRCA1):c.3357del (p.Val1120fs)

Allele ID
131169
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43092174 (GRCh38) GRCh38 UCSC
17: 41244191 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41244191del
NC_000017.11:g.43092174del
NM_007297.4:c.3216del NP_009228.2:p.Val1073fs frameshift
... more HGVS
Protein change
V1120fs
Other names
3476delT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Breast Cancer Information Core (BIC) (BRCA1): 3476&base_change=del T
ClinGen: CA002177
dbSNP: rs80357827
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 reviewed by expert panel Sep 8, 2016 RCV000112079.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7693 7841

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 08, 2016)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 1
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299930.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(Oct 02, 2015)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000328430.3
Submitted: (Oct 28, 2016)
Evidence details
Pathogenic
(Apr 10, 1997)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144736.1
Submitted: (Mar 28, 2014)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 24, 2020