NM_000077.5(CDKN2A):c.*2dup (p.Ter157=) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 5, 2024
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:: RCV001804563.3

Allele description [Variation Report for NM_000077.5(CDKN2A):c.*2dup (p.Ter157=)]

NM_000077.5(CDKN2A):c.*2dup (p.Ter157=)

Gene:

CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9p21.3

Genomic location:

Preferred name:

NM_000077.5(CDKN2A):c.*2dup (p.Ter157=)

HGVS:

NC_000009.12:g.21968229dup
NG_007485.1:g.31265dup
NM_000077.5:c.*2dupMANE SELECT
NM_001195132.2:c.*166dup
NM_001363763.2:c.*2dup
NM_058195.4:c.*117dup
NM_058197.5:c.*396dup
NP_000068.1:p.Ter157=
NP_001350692.1:p.Ter106=
LRG_11t1:c.*2dup
LRG_11:g.31265dup
NC_000009.11:g.21968228dup
NM_000077.4:c.*2dup

Links:

dbSNP: rs1327025508

NCBI 1000 Genomes Browser:

rs1327025508

Molecular consequence:

NM_001195132.2:c.*166dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_058195.4:c.*117dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_058197.5:c.*396dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000077.5:c.*2dup - no sequence alteration - [Sequence Ontology: SO:0002073]
NM_001363763.2:c.*2dup - no sequence alteration - [Sequence Ontology: SO:0002073]

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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SRX211599 (1)
SRA
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 1
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.<br/>Year introduced: 1987

MeSH
rfaC [Salmonella enterica subsp. enterica serovar Typhimurium str. LT2]
rfaC [Salmonella enterica subsp. enterica serovar Typhimurium str. LT2]
Gene ID:1255236

Gene
Repressor Proteins
Repressor Proteins
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERA...<br/>Year introduced: 1991(1979)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002053299	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 5, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002053299

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 5, 2024)

germline

clinical testing

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

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, SCV002053299.2

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

Description

The CDKN2A locus encodes two different gene products, p16INK4a and p14ARF (https://www.ncbi.nlm.nih.gov/books/NBK7030/). This variant is located 2 nucleotides downstream of the termination codon in the 3'UTR of the CDKN2A (p16INK4A) gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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: Feb 20, 2024

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