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NM_007294.3(BRCA1):c.3044dup (p.Asn1016fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
5 (Most recent: Aug 29, 2018)
Last evaluated:
Sep 8, 2016
Accession:
VCV000125601.1
Variation ID:
125601
Description:
1bp duplication
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NM_007294.3(BRCA1):c.3044dup (p.Asn1016fs)

Allele ID
131139
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43092487 (GRCh38) GRCh38 UCSC
17: 41244504 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41244506dup
NC_000017.11:g.43092489dup
NM_007297.4:c.2903dup NP_009228.2:p.Asn969fs frameshift
... more HGVS
Protein change
-
Other names
3163insG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Breast Cancer Information Core (BIC) (BRCA1): 3163&base_change=ins G
ClinGen: CA002001
dbSNP: rs80357746
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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 RCV000111990.3
Pathogenic 1 criteria provided, single submitter Apr 18, 2014 RCV000131956.2
Pathogenic 1 criteria provided, single submitter May 2, 2018 RCV000695649.1
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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
7692 7840

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: SCV000299878.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(May 02, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000824161.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Asn1016Lysfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein ... (more)
Pathogenic
(Apr 18, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000187013.5
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
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: SCV000325543.3
Submitted: (Oct 28, 2016)
Evidence details
Pathogenic
(Nov 25, 2004)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144620.1
Submitted: (Mar 28, 2014)
Evidence details

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Jan 09, 2020