NM_000077.5(CDKN2A):c.401C>T (p.Ala134Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 23, 2019
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:: RCV001021677.3

Allele description [Variation Report for NM_000077.5(CDKN2A):c.401C>T (p.Ala134Val)]

NM_000077.5(CDKN2A):c.401C>T (p.Ala134Val)

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.401C>T (p.Ala134Val)

HGVS:

NC_000009.12:g.21970958G>A
NG_007485.1:g.28534C>T
NM_000077.5:c.401C>TMANE SELECT
NM_001195132.2:c.401C>T
NM_001363763.2:c.248C>T
NM_058195.4:c.*45C>T
NM_058197.5:c.*324C>T
NP_000068.1:p.Ala134Val
NP_000068.1:p.Ala134Val
NP_001182061.1:p.Ala134Val
NP_001350692.1:p.Ala83Val
LRG_11t1:c.401C>T
LRG_11:g.28534C>T
LRG_11p1:p.Ala134Val
NC_000009.11:g.21970957G>A
NM_000077.4:c.401C>T

Protein change:

A134V

Links:

dbSNP: rs757497674

NCBI 1000 Genomes Browser:

rs757497674

Molecular consequence:

NM_058195.4:c.*45C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_058197.5:c.*324C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000077.5:c.401C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195132.2:c.401C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001363763.2:c.248C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001183324	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 23, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18573309, 8060323, 9823374 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001183324

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 23, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

In silico analysis of structural and functional consequences in p16INK4A by deleterious nsSNPs associated CDKN2A gene in malignant melanoma.

Rajasekaran R, Priya Doss CG, Sudandiradoss C, Ramanathan K, Sethumadhavan R.

Biochimie. 2008 Oct;90(10):1523-9. doi: 10.1016/j.biochi.2008.05.017. Epub 2008 Jun 5.

PubMed [citation]

PMID:: 18573309

Somatic mutations of the MTS (multiple tumor suppressor) 1/CDK4l (cyclin-dependent kinase-4 inhibitor) gene in human primary non-small cell lung carcinomas.

Hayashi N, Sugimoto Y, Tsuchiya E, Ogawa M, Nakamura Y.

Biochem Biophys Res Commun. 1994 Aug 15;202(3):1426-30.

PubMed [citation]

PMID:: 8060323

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001183324.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.A134V variant (also known as c.401C>T), located in coding exon 2 of the CDKN2A gene, results from a C to T substitution at nucleotide position 401. The alanine at codon 134 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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