NM_000077.5(CDKN2A):c.121C>G (p.Pro41Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 6, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000775632.5

Allele description [Variation Report for NM_000077.5(CDKN2A):c.121C>G (p.Pro41Ala)]

NM_000077.5(CDKN2A):c.121C>G (p.Pro41Ala)

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.121C>G (p.Pro41Ala)

HGVS:

NC_000009.12:g.21974707G>C
NG_007485.1:g.24785C>G
NM_000077.5:c.121C>GMANE SELECT
NM_001195132.2:c.121C>G
NM_001363763.2:c.-3-3499C>G
NM_058195.4:c.194-3499C>G
NM_058197.5:c.121C>G
NP_000068.1:p.Pro41Ala
NP_000068.1:p.Pro41Ala
NP_001182061.1:p.Pro41Ala
NP_478104.2:p.Pro41Ala
LRG_11t1:c.121C>G
LRG_11:g.24785C>G
LRG_11p1:p.Pro41Ala
NC_000009.11:g.21974706G>C
NM_000077.4:c.121C>G

Protein change:

P41A

Links:

dbSNP: rs765321737

NCBI 1000 Genomes Browser:

rs765321737

Molecular consequence:

NM_001363763.2:c.-3-3499C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_058195.4:c.194-3499C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000077.5:c.121C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001195132.2:c.121C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_058197.5:c.121C>G - 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
SCV000909996	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 13, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001170599	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000909996

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 13, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001170599

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 6, 2022)

germline

clinical testing

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000909996.1

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

#	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

From Ambry Genetics, SCV001170599.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.P41A variant (also known as c.121C>G), located in coding exon 1 of the CDKN2A gene, results from a C to G substitution at nucleotide position 121. The proline at codon 41 is replaced by alanine, an amino acid with highly 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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