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NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 14, 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:
RCV000568444.4

Allele description [Variation Report for NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)]

NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
HGVS:
  • NC_000008.11:g.89953587C>T
  • NG_008860.1:g.36085G>A
  • NM_001024688.3:c.1256G>A
  • NM_002485.5:c.1502G>AMANE SELECT
  • NP_001019859.1:p.Trp419Ter
  • NP_002476.2:p.Trp501Ter
  • NP_002476.2:p.Trp501Ter
  • LRG_158t1:c.1502G>A
  • LRG_158:g.36085G>A
  • LRG_158p1:p.Trp501Ter
  • NC_000008.10:g.90965815C>T
  • NM_002485.4:c.1502G>A
Protein change:
W419*
Links:
dbSNP: rs1554558472
NCBI 1000 Genomes Browser:
rs1554558472
Molecular consequence:
  • NM_001024688.3:c.1256G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002485.5:c.1502G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000662735Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 14, 2021) 		germlineclinical testing

PubMed (2)
[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

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]
PMID:
33471991
PMCID:
PMC7611105

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM, Babikyan DT, Markarian S, Petrosyan JG, Avanesian N, Arutunyan T, Sarkisian TF.

Hum Genome Var. 2021 Feb 9;8(1):9. doi: 10.1038/s41439-021-00140-2.

PubMed [citation]
PMID:
33558524
PMCID:
PMC7870655

Details of each submission

From Ambry Genetics, SCV000662735.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.W501* pathogenic mutation (also known as c.1502G>A), located in coding exon 11 of the NBN gene, results from a G to A substitution at nucleotide position 1502. This changes the amino acid from a tryptophan to a stop codon within coding exon 11. This alteration was identified in an Armenian female with a personal and family history of breast cancer (Moradian MM et al. Hum Genome Var. 2021 Feb;8:9). This variant was reported in 1/60,466 breast cancer cases and in 0/53,461 controls (Dorling et al. N Engl J Med. 2021 02;384:428-439). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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: Sep 29, 2024