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NM_007294.3(BRCA1):c.3211_3212dup (p.Leu1072fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: Oct 28, 2016)
Last evaluated:
Oct 18, 2016
Accession:
VCV000266344.1
Variation ID:
266344
Description:
2bp duplication
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NM_007294.3(BRCA1):c.3211_3212dup (p.Leu1072fs)

Allele ID
261759
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
17q21.31
Genomic location
17: 43092319-43092320 (GRCh38) GRCh38 UCSC
17: 41244336-41244337 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41244337_41244338dup
NC_000017.11:g.43092320_43092321dup
NM_007294.3:c.3211_3212dup NP_009225.1:p.Leu1072fs frameshift
... more HGVS
Protein change
-
Other names
3328insAG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10589775
dbSNP: rs886040105
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 reviewed by expert panel Oct 18, 2016 RCV000257316.2
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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
7692 7840

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 18, 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: SCV000323576.1
Submitted: (Oct 18, 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: SCV000325577.3
Submitted: (Oct 28, 2016)
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