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NM_000059.3(BRCA2):c.67G>A (p.Asp23Asn)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Oct 5, 2017)
Last evaluated:
Apr 28, 2017
Accession:
VCV000225732.1
Variation ID:
225732
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.67G>A (p.Asp23Asn)

Allele ID
227519
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32316527 (GRCh38) GRCh38 UCSC
13: 32890664 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.32316527G>A
NC_000013.10:g.32890664G>A
NM_000059.3:c.67G>A NP_000050.2:p.Asp23Asn missense
... more HGVS
Protein change
D23N
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10576059
dbSNP: rs397507881
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 21, 2016 RCV000211034.1
Uncertain significance 1 criteria provided, single submitter Apr 28, 2017 RCV000548779.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
10748 10826

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 21, 2016)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Michigan Medical Genetics Laboratories,University of Michigan
Accession: SCV000267724.1
Submitted: (Apr 21, 2016)
Evidence details
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000635532.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This variant also falls at the last nucleotide of exon 2 of the BRCA2 coding sequence, which is part of the consensus splice site for ... (more)

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 Nov 06, 2019