U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2016
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:
RCV000656808.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro)]

NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro)

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.8860T>C (p.Ser2954Pro)
HGVS:
  • NC_000013.11:g.32379422T>C
  • NG_012772.3:g.68943T>C
  • NM_000059.4:c.8860T>CMANE SELECT
  • NP_000050.2:p.Ser2954Pro
  • NP_000050.3:p.Ser2954Pro
  • LRG_293t1:c.8860T>C
  • LRG_293:g.68943T>C
  • LRG_293p1:p.Ser2954Pro
  • NC_000013.10:g.32953559T>C
  • NM_000059.3:c.8860T>C
Protein change:
S2954P
Links:
dbSNP: rs886041145
NCBI 1000 Genomes Browser:
rs886041145
Molecular consequence:
  • NM_000059.4:c.8860T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000329144GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 8, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000329144.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted BRCA2 c.8860T>C at the cDNA level, p.Ser2954Pro (S2954P) at the protein level, and results in the change of a Serine to a Proline (TCT>CCT). Using alternate nomenclature, this variant would be defined as BRCA2 9088T>C. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Ser2954Pro was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Serine and Proline differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Ser2954Pro occurs at a position that is not conserved and is located in the DNA binding domain (Yang 2002). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Ser2954Pro is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024