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NM_000059.3(BRCA2):c.2231C>T (p.Ser744Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 2014
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:
RCV000166823.1

Allele description

NM_000059.3(BRCA2):c.2231C>T (p.Ser744Leu)

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.2231C>T (p.Ser744Leu)
HGVS:
  • NC_000013.11:g.32336586C>T
  • NG_012772.3:g.26107C>T
  • NM_000059.3:c.2231C>T
  • NP_000050.2:p.Ser744Leu
  • LRG_293t1:c.2231C>T
  • LRG_293:g.26107C>T
  • LRG_293p1:p.Ser744Leu
  • NC_000013.10:g.32910723C>T
  • p.S744L
Protein change:
S744L
Links:
dbSNP: rs397507282
NCBI 1000 Genomes Browser:
rs397507282
Molecular consequence:
  • NM_000059.3:c.2231C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000217637Ambry Genetics,
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))		Uncertain significance
(Nov 7, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics,, SCV000217637.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 29, 2016