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NM_002485.5(NBN):c.2185-1G>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 20, 2022
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:
RCV002425469.2

Allele description [Variation Report for NM_002485.5(NBN):c.2185-1G>T]

NM_002485.5(NBN):c.2185-1G>T

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.2185-1G>T
HGVS:
  • NC_000008.11:g.89937076C>A
  • NG_008860.1:g.52596G>T
  • NM_001024688.3:c.1939-1G>T
  • NM_002485.5:c.2185-1G>TMANE SELECT
  • LRG_158t1:c.2185-1G>T
  • LRG_158:g.52596G>T
  • NC_000008.10:g.90949304C>A
  • NM_002485.4:c.2185-1G>T
Molecular consequence:
  • NM_001024688.3:c.1939-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_002485.5:c.2185-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
    SCV002730505Ambry Genetics
    criteria provided, single submitter

    (Ambry Variant Classification Scheme 2023)    		Likely pathogenic
    (Sep 20, 2022)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

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

    Details of each submission

    From Ambry Genetics, SCV002730505.2

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

    Description

    The c.2185-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 15 of the NBN gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNA decay; however, direct evidence is unavailable. The exact functional effect of the altered amino acid sequence is unknown; however, the impacted region is critical for protein function (Ambry internal data). This nucleotide position is highly conserved in available vertebrate species. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

    Last Updated: May 1, 2024