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NM_000059.3(BRCA2):c.6220_6222delinsAA (p.His2074fs)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: Sep 13, 2016)
Last evaluated:
Sep 8, 2016
Accession:
VCV000052036.1
Variation ID:
52036
Description:
1bp indel
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NM_000059.3(BRCA2):c.6220_6222delinsAA (p.His2074fs)

Allele ID
66704
Variant type
Indel
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32340575-32340577 (GRCh38) GRCh38 UCSC
13: 32914712-32914714 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32914712_32914714delinsAA
NC_000013.11:g.32340575_32340577delinsAA
NM_000059.3:c.6220_6222delinsAA NP_000050.2:p.His2074fs frameshift
... more HGVS
Protein change
-
Other names
6448delCACinsAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Breast Cancer Information Core (BIC) (BRCA2): 6448&base_change=del CAC ins AA
ClinGen: CA023768
dbSNP: rs276174867
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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 Sep 8, 2016 RCV000113551.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
11030 11116

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 2
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000301004.2
Submitted: (Sep 13, 2016)
Evidence details
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Pathogenic
(Oct 29, 2001)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146798.1
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 09, 2020