NM_015658.4(NOC2L):c.490C>T (p.Arg164Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 17, 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:
RCV004204825.1

Allele description [Variation Report for NM_015658.4(NOC2L):c.490C>T (p.Arg164Cys)]

NM_015658.4(NOC2L):c.490C>T (p.Arg164Cys)

Gene:
NOC2L:NOC2 like nucleolar associated transcriptional repressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_015658.4(NOC2L):c.490C>T (p.Arg164Cys)
HGVS:
  • NC_000001.11:g.956212G>A
  • NG_027546.1:g.626G>A
  • NM_015658.4:c.490C>TMANE SELECT
  • NP_056473.3:p.Arg164Cys
  • NC_000001.10:g.891592G>A
  • NM_015658.3:c.490C>T
Protein change:
R164C
Molecular consequence:
  • NM_015658.4:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003711492Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 17, 2021) 		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, SCV003711492.2

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

Description

The c.490C>T (p.R164C) alteration is located in exon 5 (coding exon 5) of the NOC2L gene. This alteration results from a C to T substitution at nucleotide position 490, causing the arginine (R) at amino acid position 164 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024