Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000059.3(BRCA2):c.5200G>A (p.Glu1734Lys)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 14, 2020
Accession:
VCV000185896.7
Variation ID:
185896
Description:
single nucleotide variant
Help

NM_000059.3(BRCA2):c.5200G>A (p.Glu1734Lys)

Allele ID
183844
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32339555 (GRCh38) GRCh38 UCSC
13: 32913692 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32913692G>A
NC_000013.11:g.32339555G>A
NM_000059.3:c.5200G>A NP_000050.2:p.Glu1734Lys missense
... more HGVS
Protein change
E1734K
Other names
-
Canonical SPDI
NC_000013.11:32339554:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA021678
dbSNP: rs786202543
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 14, 2020 RCV000205413.4
Uncertain significance 1 criteria provided, single submitter Aug 22, 2018 RCV000485722.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 22, 2019 RCV000165399.4
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 22, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000572788.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted BRCA2 c.5200G>A at the cDNA level, p.Glu1734Lys (E1734K) at the protein level, and results in the change of a Glutamic Acid … (more)
Likely benign
(Sep 09, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903154.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Feb 22, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000216126.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (4)
Comment:
The p.E1734K variant (also known as c.5200G>A), located in coding exon 10 of the BRCA2 gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Oct 14, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000260139.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces glutamic acid with lysine at codon 1734 of the BRCA2 protein (p.Glu1734Lys). The glutamic acid residue is weakly conserved and there … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. Momozawa Y Nature communications 2018 PMID: 30287823
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help? Zuntini R Frontiers in genetics 2018 PMID: 30254663
Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. Singh J Breast cancer research and treatment 2018 PMID: 29470806
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
High prevalence of BRCA1 founder mutations in Greek breast/ovarian families. Konstantopoulou I Clinical genetics 2014 PMID: 24010542

Text-mined citations for rs786202543...

Help
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 Apr 18, 2021