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NM_000077.5(CDKN2A):c.265G>A (p.Gly89Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 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:
RCV002453255.2

Allele description [Variation Report for NM_000077.5(CDKN2A):c.265G>A (p.Gly89Ser)]

NM_000077.5(CDKN2A):c.265G>A (p.Gly89Ser)

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.265G>A (p.Gly89Ser)
Other names:
G259S
HGVS:
  • NC_000009.12:g.21971094C>T
  • NG_007485.1:g.28398G>A
  • NM_000077.5:c.265G>AMANE SELECT
  • NM_001195132.2:c.265G>A
  • NM_001363763.2:c.112G>A
  • NM_058195.4:c.308G>A
  • NM_058197.5:c.*188G>A
  • NP_000068.1:p.Gly89Ser
  • NP_001182061.1:p.Gly89Ser
  • NP_001350692.1:p.Gly38Ser
  • NP_478102.2:p.Gly103Glu
  • LRG_11t1:c.265G>A
  • LRG_11:g.28398G>A
  • NC_000009.11:g.21971093C>T
  • NM_000077.4:c.265G>A
  • P42771:p.Gly89Ser
Protein change:
G103E; GLY259SER
Links:
UniProtKB: P42771#VAR_001454; OMIM: 600160.0001; dbSNP: rs137854597
NCBI 1000 Genomes Browser:
rs137854597
Molecular consequence:
  • NM_058197.5:c.*188G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000077.5:c.265G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195132.2:c.265G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363763.2:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058195.4:c.308G>A - 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
SCV002739475Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 2021) 		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, SCV002739475.2

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

Description

The p.G89S variant (also known as c.265G>A), located in coding exon 2 of the CDKN2A gene, results from a G to A substitution at nucleotide position 265. The glycine at codon 89 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: May 1, 2024