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NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) AND BRCA2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2024
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:
RCV004732541.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)]

NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
Other names:
995del5
HGVS:
  • NC_000013.10:g.32905141_32905145del
  • NC_000013.11:g.32331008_32331012del
  • NG_012772.3:g.20529_20533del
  • NM_000059.4:c.771_775delMANE SELECT
  • NP_000050.3:p.Asn257fs
  • LRG_293:g.20529_20533del
  • NC_000013.10:g.32905141_32905145del
  • NC_000013.10:g.32905145_32905149del
  • NC_000013.10:g.32905145_32905149del
  • NC_000013.10:g.32905145_32905149delTCAAA
  • NM_000059.3:c.771_775delTCAAA
  • NM_000059.4:c.771_775delTCAAA
  • U43746.1:n.995_999delCAAAT
  • U43746.1:n.999_1003delTCAAA
  • p.Asn257Lysfs*17
  • p.N257KFS*17
  • p.N257KfsX17
Nucleotide change:
999del5
Links:
Breast Cancer Information Core (BIC) (BRCA2): 995&base_change=del CAAAT; Breast Cancer Information Core (BIC) (BRCA2): 999&base_change=del TCAAA; OMIM: 600185.0010; dbSNP: rs80359671
NCBI 1000 Genomes Browser:
rs80359671
Molecular consequence:
  • NM_000059.4:c.771_775del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
BRCA2-related disorder
Synonyms:
BRCA2-Related Disorders; BRCA2-related condition
Identifiers:
MedGen: CN239275

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005364793PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 30, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005364793.1

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

Description

The BRCA2 c.771_775del5 variant is predicted to result in a frameshift and premature protein termination (p.Asn257Lysfs*17). This variant (also reported as c.999del5) has been reported to be causative for breast and ovarian cancer (Tavtigian et al. 1996. PubMed ID: 8589730; Kang et al. 2015. PubMed ID: 25863477; Castéra et al. 2014. PubMed ID: 24549055) and is considered an Icelandic pathogenic founder variant associated with breast and ovarian cancers (Thorlacius et al. 1996. PubMed ID: 8673089; Thorlacius et al. 1997. PubMed ID: 9150155). This variant is reported in 0.0092% of alleles in individuals of European (Finnish) descent in gnomAD. Frameshift variants in BRCA2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Nov 3, 2024