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NM_000077.5(CDKN2A):c.59C>G (p.Ala20Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 19, 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:
RCV000235937.2

Allele description [Variation Report for NM_000077.5(CDKN2A):c.59C>G (p.Ala20Gly)]

NM_000077.5(CDKN2A):c.59C>G (p.Ala20Gly)

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.59C>G (p.Ala20Gly)
HGVS:
  • NC_000009.12:g.21974769G>C
  • NG_007485.1:g.24723C>G
  • NM_000077.5:c.59C>GMANE SELECT
  • NM_001195132.2:c.59C>G
  • NM_001363763.2:c.-3-3561C>G
  • NM_058195.4:c.194-3561C>G
  • NM_058197.5:c.59C>G
  • NP_000068.1:p.Ala20Gly
  • NP_000068.1:p.Ala20Gly
  • NP_001182061.1:p.Ala20Gly
  • NP_478104.2:p.Ala20Gly
  • LRG_11t1:c.59C>G
  • LRG_11:g.24723C>G
  • LRG_11p1:p.Ala20Gly
  • NC_000009.11:g.21974768G>C
  • NM_000077.4:c.59C>G
Protein change:
A20G
Links:
dbSNP: rs864622484
NCBI 1000 Genomes Browser:
rs864622484
Molecular consequence:
  • NM_001363763.2:c.-3-3561C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058195.4:c.194-3561C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000077.5:c.59C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195132.2:c.59C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058197.5:c.59C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293849GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 19, 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, SCV000293849.10

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

Description

This variant is denoted CDKN2A c.59C>G at the cDNA level, p.Ala20Gly (A20G) at the protein level, and results in the change of an Alanine to a Glycine (GCG>GGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. CDKN2A Ala20Gly 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 Alanine and Glycine share similar properties, this is considered a conservative amino acid substitution. CDKN2A Ala20Gly occurs at a position that is conserved across species and is located within the ANK 1 repeat (UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether CDKN2A Ala20Gly 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