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NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 2017
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:
RCV000236533.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu)]

NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu)

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.5975C>T (p.Ser1992Leu)
HGVS:
  • NC_000013.11:g.32340330C>T
  • NG_012772.3:g.29851C>T
  • NM_000059.4:c.5975C>TMANE SELECT
  • NP_000050.2:p.Ser1992Leu
  • NP_000050.3:p.Ser1992Leu
  • LRG_293t1:c.5975C>T
  • LRG_293:g.29851C>T
  • LRG_293p1:p.Ser1992Leu
  • NC_000013.10:g.32914467C>T
  • NM_000059.3:c.5975C>T
  • U43746.1:n.6203C>T
Protein change:
S1992L
Links:
dbSNP: rs80358830
NCBI 1000 Genomes Browser:
rs80358830
Molecular consequence:
  • NM_000059.4:c.5975C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293741GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 22, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293741.8

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

Description

This variant is denoted BRCA2 c.5975C>T at the cDNA level, p.Ser1992Leu (S1992L) at the protein level, and results in the change of a Serine to a Leucine (TCA>TTA). Using alternate nomenclature, this variant would be defined as BRCA2 6203C>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Ser1992Leu 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 Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Ser1992Leu occurs at a position that is not conserved and is located in the 7th BRC repeat and the RAD51 binding domain (Roy 2012). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Ser1992Leu 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 1, 2024