NM_000059.3(BRCA2):c.5479A>G (p.Ile1827Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000562248.1

Allele description

NM_000059.3(BRCA2):c.5479A>G (p.Ile1827Val)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.5479A>G (p.Ile1827Val)
HGVS:
  • NC_000013.11:g.32339834A>G
  • NG_012772.3:g.29355A>G
  • NM_000059.3:c.5479A>G
  • NP_000050.2:p.Ile1827Val
  • LRG_293t1:c.5479A>G
  • LRG_293:g.29355A>G
  • LRG_293p1:p.Ile1827Val
  • NC_000013.10:g.32913971A>G
  • U43746.1:n.5707A>G
Protein change:
I1827V
Links:
dbSNP: rs80358770
NCBI 1000 Genomes Browser:
rs80358770
Molecular consequence:
  • NM_000059.3:c.5479A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000661277Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))
Uncertain significance
(Apr 7, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000661277.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 25, 2019