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NM_007294.4(BRCA1):c.3676_3679del (p.Phe1226fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
3 (Most recent: Sep 13, 2016)
Last evaluated:
Sep 8, 2016
Accession:
VCV000054961.1
Variation ID:
54961
Description:
4bp deletion
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NM_007294.4(BRCA1):c.3676_3679del (p.Phe1226fs)

Allele ID
69628
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
17q21.31
Genomic location
17: 43091852-43091855 (GRCh38) GRCh38 UCSC
17: 41243869-41243872 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41243870_41243873del
NC_000017.11:g.43091853_43091856del
NM_007294.4:c.3676_3679del MANE Select NP_009225.1:p.Phe1226fs frameshift
... more HGVS
Protein change
F1226fs, F1179fs
Other names
3795del4
Canonical SPDI
NC_000017.11:43091851:GGAAG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Breast Cancer Information Core (BIC) (BRCA1): 3795&base_change=del TTCC
ClinGen: CA002353
dbSNP: rs80357671
Varsome
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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 RCV000112153.2
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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
11953 12119

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: SCV000299992.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144834.1
Submitted: (Mar 28, 2014)
Evidence details
Pathogenic
(Jun 16, 2009)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 1
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000297603.1
Submitted: (Aug 20, 2015)
Evidence details

Functional evidence

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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 this variant

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

Text-mined citations for rs80357671...

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These 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 Apr 01, 2021