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NM_007294.3(BRCA1):c.1340_1341insG (p.His448fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
6 (Most recent: Oct 22, 2019)
Last evaluated:
Sep 8, 2016
Accession:
VCV000037401.2
Variation ID:
37401
Description:
1bp insertion
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NM_007294.3(BRCA1):c.1340_1341insG (p.His448fs)

Allele ID
45957
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43094190-43094191 (GRCh38) GRCh38 UCSC
17: 41246207-41246208 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.43094190_43094191insC
NC_000017.10:g.41246207_41246208insC
LRG_292t1:c.1340_1341insG LRG_292p1:p.His448fs
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs80357597
ClinGen: CA000877
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 reviewed by expert panel Sep 8, 2016 RCV000111592.4
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jul 2, 2018 RCV000697117.1
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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
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: SCV000299583.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(Feb 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000825711.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.His448Serfs*8) in the BRCA1 gene. It is expected to result in an absent or disrupted protein ... (more)
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: SCV000325030.3
Submitted: (Oct 28, 2016)
Evidence details
Pathogenic
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: unknown
Mendelics
Accession: SCV000839287.1
Submitted: (Aug 20, 2018)
Evidence details
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: unknown
Mendelics
Accession: SCV001140609.1
Submitted: (Oct 22, 2019)
Evidence details
Pathogenic
(May 05, 2006)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144062.1
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
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. Meisel C Archives of gynecology and obstetrics 2017 PMID: 28324225

Record last updated Jan 26, 2020