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NM_000059.3(BRCA2):c.8162T>A (p.Leu2721His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 6, 2018)
Last evaluated:
Jul 31, 2018
Accession:
VCV000052513.2
Variation ID:
52513
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.8162T>A (p.Leu2721His)

Allele ID
67181
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32363364 (GRCh38) GRCh38 UCSC
13: 32937501 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32937501T>A
NC_000013.11:g.32363364T>A
NM_000059.3:c.8162T>A NP_000050.2:p.Leu2721His missense
... more HGVS
Protein change
L2721H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA025477
dbSNP: rs80359061
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jul 31, 2018 RCV000223648.3
Uncertain significance 1 no assertion criteria provided Feb 20, 2004 RCV000113878.1
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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
11030 11116

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 13, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000274611.2
Submitted: (May 09, 2016)
Evidence details
Uncertain significance
(Jul 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000683948.2
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Feb 20, 2004)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000147285.1
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