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NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000414464.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter)]

NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter)

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.8557A>T (p.Lys2853Ter)
HGVS:
  • NC_000013.11:g.32371025A>T
  • NG_012772.3:g.60546A>T
  • NM_000059.4:c.8557A>TMANE SELECT
  • NP_000050.2:p.Lys2853Ter
  • NP_000050.3:p.Lys2853Ter
  • LRG_293t1:c.8557A>T
  • LRG_293:g.60546A>T
  • LRG_293p1:p.Lys2853Ter
  • NC_000013.10:g.32945162A>T
  • NM_000059.3:c.8557A>T
  • p.(Lys2853Ter)
Protein change:
K2853*
Links:
dbSNP: rs1057517865
NCBI 1000 Genomes Browser:
rs1057517865
Molecular consequence:
  • NM_000059.4:c.8557A>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000490915GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 6, 2015) 		germlineclinical testing

Citation Link,

SCV004703512CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jan 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000490915.3

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

Description

This pathogenic variant is denoted BRCA2 c.8557A>T at the cDNA level and p.Lys2853Ter (K2853X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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

From CeGaT Center for Human Genetics Tuebingen, SCV004703512.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

BRCA2: PVS1, PM2, PS4:Supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024