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NM_002485.5(NBN):c.804G>C (p.Thr268=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 12, 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:
RCV003352928.2

Allele description [Variation Report for NM_002485.5(NBN):c.804G>C (p.Thr268=)]

NM_002485.5(NBN):c.804G>C (p.Thr268=)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.804G>C (p.Thr268=)
HGVS:
  • NC_000008.11:g.89970456C>G
  • NG_008860.1:g.19216G>C
  • NM_001024688.3:c.558G>C
  • NM_002485.5:c.804G>CMANE SELECT
  • NP_001019859.1:p.Thr186=
  • NP_002476.2:p.Thr268=
  • NP_002476.2:p.Thr268=
  • LRG_158t1:c.804G>C
  • LRG_158:g.19216G>C
  • LRG_158p1:p.Thr268=
  • NC_000008.10:g.90982684C>G
  • NM_002485.4:c.804G>C
Links:
dbSNP: rs141443872
NCBI 1000 Genomes Browser:
rs141443872
Molecular consequence:
  • NM_001024688.3:c.558G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002485.5:c.804G>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004051393Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 12, 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, SCV004051393.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024