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NM_002485.5(NBN):c.808_809del (p.Val270fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 2021
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:
RCV000165330.8

Allele description [Variation Report for NM_002485.5(NBN):c.808_809del (p.Val270fs)]

NM_002485.5(NBN):c.808_809del (p.Val270fs)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.808_809del (p.Val270fs)
HGVS:
  • NC_000008.11:g.89970451AC[2]
  • NG_008860.1:g.19216GT[2]
  • NM_001024688.3:c.562_563del
  • NM_002485.5:c.808_809delMANE SELECT
  • NP_001019859.1:p.Val188fs
  • NP_002476.2:p.Val270fs
  • LRG_158t1:c.808_809del
  • LRG_158:g.19216GT[2]
  • NC_000008.10:g.90982679AC[2]
  • NC_000008.10:g.90982679_90982680del
  • NM_002485.4:c.808_809del
  • NM_002485.4:c.808_809delGT
  • p.V270CFS*2
Protein change:
V188fs
Links:
dbSNP: rs786202490
NCBI 1000 Genomes Browser:
rs786202490
Molecular consequence:
  • NM_001024688.3:c.562_563del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002485.5:c.808_809del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000216053Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 25, 2021) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV.

Breast Cancer Res. 2014 Jun 3;16(3):R58. doi: 10.1186/bcr3669.

PubMed [citation]
PMID:
24894818
PMCID:
PMC4229874

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013.

PubMed [citation]
PMID:
26046366
PMCID:
PMC4457956
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000216053.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The c.808_809delGT pathogenic mutation, located in coding exon 7 of the NBN gene, results from a deletion of two nucleotides at nucleotide positions 808 to 809, causing a translational frameshift with a predicted alternate stop codon (p.V270Cfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024