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NM_000059.3(BRCA2):c.1054T>C (p.Tyr352His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 17, 2020
Accession:
VCV000187741.8
Variation ID:
187741
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.1054T>C (p.Tyr352His)

Allele ID
183656
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32332532 (GRCh38) GRCh38 UCSC
13: 32906669 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.32332532T>C
NC_000013.10:g.32906669T>C
NM_000059.3:c.1054T>C NP_000050.2:p.Tyr352His missense
... more HGVS
Protein change
Y352H
Other names
-
Canonical SPDI
NC_000013.11:32332531:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA010685
dbSNP: rs542343726
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 14, 2019 RCV000167496.3
Likely benign 1 criteria provided, single submitter Feb 4, 2020 RCV000470929.5
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 17, 2020 RCV000485522.3
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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
Likely benign
(Jul 21, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000569857.3
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Jul 17, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001426859.1
Submitted: (Aug 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: BRCA2 c.1054T>C (p.Tyr352His) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign … (more)
Benign
(Mar 14, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000218354.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other strong data supporting benign classification;Seen in trans with a mutation or in homozygous state in individual without severe disease … (more)
Likely benign
(Feb 04, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000560437.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 07, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903401.1
Submitted: (Nov 06, 2018)
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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Title Author Journal Year Link
BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. Lara K Biological research 2012 PMID: 23096355

Text-mined citations for rs542343726...

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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