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NM_000059.3(BRCA2):c.3362C>A (p.Ser1121Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 24, 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:
RCV000131099.2

Allele description

NM_000059.3(BRCA2):c.3362C>A (p.Ser1121Ter)

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.3362C>A (p.Ser1121Ter)
HGVS:
  • NC_000013.11:g.32337717C>A
  • NG_012772.3:g.27238C>A
  • NM_000059.3:c.3362C>A
  • NP_000050.2:p.Ser1121Ter
  • LRG_293t1:c.3362C>A
  • LRG_293:g.27238C>A
  • LRG_293p1:p.Ser1121Ter
  • NC_000013.10:g.32911854C>A
  • U43746.1:n.3590C>A
  • p.S1121*
Protein change:
S1121X
Links:
dbSNP: rs80358579
NCBI 1000 Genomes Browser:
rs80358579
Molecular consequence:
  • NM_000059.3:c.3362C>A - nonsense - [Sequence Ontology: SO:0001587]
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
SCV000186029Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))
Pathogenic
(Apr 24, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines.

De Leon Matsuda ML, Liede A, Kwan E, Mapua CA, Cutiongco EM, Tan A, Borg A, Narod SA.

Int J Cancer. 2002 Apr 1;98(4):596-603.

PubMed [citation]
PMID:
11920621

Details of each submission

From Ambry Genetics, SCV000186029.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 1, 2018