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NM_000059.3(BRCA2):c.1219C>T (p.Gln407Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Apr 7, 2021)
Last evaluated:
Mar 22, 2021
Accession:
VCV000462226.7
Variation ID:
462226
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.1219C>T (p.Gln407Ter)

Allele ID
462695
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32332697 (GRCh38) GRCh38 UCSC
13: 32906834 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32906834C>T
NC_000013.11:g.32332697C>T
NM_000059.3:c.1219C>T NP_000050.2:p.Gln407Ter nonsense
... more HGVS
Protein change
Q407*
Other names
-
Canonical SPDI
NC_000013.11:32332696:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA387762117
dbSNP: rs781079248
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 22, 2021 RCV000547485.4
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 15, 2020 RCV000583844.3
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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
14102 14215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000688700.2
Submitted: (May 19, 2020)
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
Evidence details
Pathogenic
(Aug 06, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001170594.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.Q407* pathogenic mutation (also known as c.1219C>T), located in coding exon 9 of the BRCA2 gene, results from a C to T substitution at … (more)
Likely pathogenic
(Mar 22, 2021)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001554632.1
Submitted: (Apr 07, 2021)
Evidence details
Comment:
Variant summary: BRCA2 c.1219C>T (p.Gln407X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Mar 19, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000635147.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Gln407*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein … (more)

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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Title Author Journal Year Link
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. Borg A Human mutation 2010 PMID: 20104584

Text-mined citations for rs781079248...

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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 Jun 14, 2021