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NM_000059.4(BRCA2):c.9611C>G (p.Thr3204Ser) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 2002
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000114134.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.9611C>G (p.Thr3204Ser)]

NM_000059.4(BRCA2):c.9611C>G (p.Thr3204Ser)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.9611C>G (p.Thr3204Ser)
HGVS:
  • NC_000013.11:g.32397007C>G
  • NG_012772.3:g.86528C>G
  • NM_000059.4:c.9611C>GMANE SELECT
  • NP_000050.2:p.Thr3204Ser
  • NP_000050.3:p.Thr3204Ser
  • LRG_293t1:c.9611C>G
  • LRG_293:g.86528C>G
  • LRG_293p1:p.Thr3204Ser
  • NC_000013.10:g.32971144C>G
  • NM_000059.3:c.9611C>G
  • U43746.1:n.9839C>G
Protein change:
T3204S
Links:
dbSNP: rs80359232
NCBI 1000 Genomes Browser:
rs80359232
Molecular consequence:
  • NM_000059.4:c.9611C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000147674Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(May 29, 2002)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147674.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Mar 30, 2024