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NM_002485.5(NBN):c.881T>C (p.Met294Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 28, 2016
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:
RCV000478839.1

Allele description [Variation Report for NM_002485.5(NBN):c.881T>C (p.Met294Thr)]

NM_002485.5(NBN):c.881T>C (p.Met294Thr)

Gene:
NBN:nibrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_002485.5(NBN):c.881T>C (p.Met294Thr)
HGVS:
  • NC_000008.11:g.89970379A>G
  • NG_008860.1:g.19293T>C
  • NM_001024688.3:c.635T>C
  • NM_002485.5:c.881T>CMANE SELECT
  • NP_001019859.1:p.Met212Thr
  • NP_002476.2:p.Met294Thr
  • NP_002476.2:p.Met294Thr
  • LRG_158t1:c.881T>C
  • LRG_158:g.19293T>C
  • LRG_158p1:p.Met294Thr
  • NC_000008.10:g.90982607A>G
  • NM_002485.4:c.881T>C
Protein change:
M212T
Links:
dbSNP: rs779346343
NCBI 1000 Genomes Browser:
rs779346343
Molecular consequence:
  • NM_001024688.3:c.635T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002485.5:c.881T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570768GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 28, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000570768.3

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

Description

This variant is denoted NBN c.881T>C at the cDNA level, p.Met294Thr (M294T) at the protein level, and results in the change of a Methionine to a Threonine (ATG>ACG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. NBN Met294Thr was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Methionine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. NBN Met294Thr occurs at a position where amino acids with properties similar to Methionine are tolerated across species and is located in the region known for interaction with MTOR, MAPKAP1 and RICTOR (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether NBN Met294Thr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024