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NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:
Aug 26, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000113017.15

Allele description [Variation Report for NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)]

NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)

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.2122T>A (p.Ser708Thr)
HGVS:
  • NC_000013.11:g.32336477T>A
  • NG_012772.3:g.25998T>A
  • NM_000059.4:c.2122T>AMANE SELECT
  • NP_000050.2:p.Ser708Thr
  • NP_000050.3:p.Ser708Thr
  • LRG_293t1:c.2122T>A
  • LRG_293:g.25998T>A
  • LRG_293p1:p.Ser708Thr
  • NC_000013.10:g.32910614T>A
  • NM_000059.3:c.2122T>A
  • U43746.1:n.2350T>A
  • p.S708T
Protein change:
S708T
Links:
dbSNP: rs80358488
NCBI 1000 Genomes Browser:
rs80358488
Molecular consequence:
  • NM_000059.4:c.2122T>A - 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
SCV000146008Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Jul 7, 2000)
germlineclinical testing

SCV000785073Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Uncertain significance
(Mar 31, 2017)
unknownclinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV005405002Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))
Likely benign
(Aug 26, 2024)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Asiangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

BRCA1 and BRCA2 mutations in women from Shanghai China.

Suter NM, Ray RM, Hu YW, Lin MG, Porter P, Gao DL, Zaucha RE, Iwasaki LM, Sabacan LP, Langlois MC, Thomas DB, Ostrander EA.

Cancer Epidemiol Biomarkers Prev. 2004 Feb;13(2):181-9.

PubMed [citation]
PMID:
14973102

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

Pruss D, Morris B, Hughes E, Eggington JM, Esterling L, Robinson BS, van Kan A, Fernandes PH, Roa BB, Gutin A, Wenstrup RJ, Bowles KR.

Breast Cancer Res Treat. 2014 Aug;147(1):119-32. doi: 10.1007/s10549-014-3065-9. Epub 2014 Aug 2.

PubMed [citation]
PMID:
25085752

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146008.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Counsyl, SCV000785073.2

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

From Myriad Genetics, Inc., SCV005405002.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025