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NM_000059.3(BRCA2):c.550C>T (p.Leu184=)

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Interpretation:
Likely benign​

Review status:
reviewed by expert panel
Submissions:
1 (Most recent: Jun 29, 2017)
Last evaluated:
Jun 29, 2017
Accession:
VCV000427464.2
Variation ID:
427464
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.550C>T (p.Leu184=)

Allele ID
416242
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32326532 (GRCh38) GRCh38 UCSC
13: 32900669 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32900669C>T
NC_000013.11:g.32326532C>T
NM_000059.3:c.550C>T NP_000050.2:p.Leu184= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA483273843
dbSNP: rs749053313
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 reviewed by expert panel Jun 29, 2017 RCV000495061.2
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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
Likely benign
(Jun 29, 2017)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 2
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000578799.2
Submitted: (Jun 29, 2017)
Evidence details
Comment:
Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

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 16, 2020