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NM_000077.5(CDKN2A):c.150G>C (p.Gln50His) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 10, 2020
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:
RCV002395775.2

Allele description [Variation Report for NM_000077.5(CDKN2A):c.150G>C (p.Gln50His)]

NM_000077.5(CDKN2A):c.150G>C (p.Gln50His)

Gene:
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p21.3
Genomic location:
Preferred name:
NM_000077.5(CDKN2A):c.150G>C (p.Gln50His)
HGVS:
  • NC_000009.12:g.21974678C>G
  • NG_007485.1:g.24814G>C
  • NM_000077.5:c.150G>CMANE SELECT
  • NM_001195132.2:c.150G>C
  • NM_001363763.2:c.-3-3470G>C
  • NM_058195.4:c.194-3470G>C
  • NM_058197.5:c.150G>C
  • NP_000068.1:p.Gln50His
  • NP_001182061.1:p.Gln50His
  • NP_478104.2:p.Gln50His
  • LRG_11t1:c.150G>C
  • LRG_11:g.24814G>C
  • NC_000009.11:g.21974677C>G
  • NM_000077.4:c.150G>C
Protein change:
Q50H
Links:
dbSNP: rs1057519882
NCBI 1000 Genomes Browser:
rs1057519882
Molecular consequence:
  • NM_001363763.2:c.-3-3470G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058195.4:c.194-3470G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000077.5:c.150G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195132.2:c.150G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058197.5:c.150G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002705004Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 10, 2020) 		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, SCV002705004.2

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

Description

The p.Q50H variant (also known as c.150G>C), located in coding exon 1 of the CDKN2A gene, results from a G to C substitution at nucleotide position 150. The glutamine at codon 50is replaced by histidine , an amino acid with highly similar properties. However, this change occurs in the last base pair of coding exon 1, which makes it likely to have some effect on normal mRNA splicing. This nucleotide and amino acid positions are highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. In addition, as a missense substitution this is predicted to be inconclusive by in silico analysis. 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: Oct 8, 2024