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NM_002485.5(NBN):c.2227_2228del (p.Leu743fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2023
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:
RCV000215231.5

Allele description [Variation Report for NM_002485.5(NBN):c.2227_2228del (p.Leu743fs)]

NM_002485.5(NBN):c.2227_2228del (p.Leu743fs)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.2227_2228del (p.Leu743fs)
HGVS:
  • NC_000008.11:g.89937033_89937034del
  • NG_008860.1:g.52639_52640del
  • NM_001024688.3:c.1981_1982del
  • NM_002485.5:c.2227_2228delMANE SELECT
  • NP_001019859.1:p.Leu661fs
  • NP_002476.2:p.Leu743fs
  • LRG_158:g.52639_52640del
  • NC_000008.10:g.90949260_90949261del
  • NC_000008.10:g.90949261_90949262del
  • NM_002485.4:c.2227_2228delCT
Protein change:
L661fs
Links:
dbSNP: rs876659551
NCBI 1000 Genomes Browser:
rs876659551
Molecular consequence:
  • NM_001024688.3:c.1981_1982del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002485.5:c.2227_2228del - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000276140Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 26, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000276140.8

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

Description

The c.2227_2228delCT variant, located in coding exon 15 of the NBN gene, results from a deletion of two nucleotides at nucleotide positions 2227 to 2228, causing a translational frameshift with a predicted alternate stop codon (p.L743Ffs*2). This alteration occurs at the 3' terminus of theNBN gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 12 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024