NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg) AND Melanoma-pancreatic cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 21, 2023
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:: RCV003316213.1

Allele description [Variation Report for NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg)]

NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg)

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.143C>G (p.Pro48Arg)

HGVS:

NC_000009.12:g.21974685G>C
NG_007485.1:g.24807C>G
NM_000077.5:c.143C>GMANE SELECT
NM_001195132.2:c.143C>G
NM_001363763.2:c.-3-3477C>G
NM_058195.4:c.194-3477C>G
NM_058197.5:c.143C>G
NP_000068.1:p.Pro48Arg
NP_000068.1:p.Pro48Arg
NP_001182061.1:p.Pro48Arg
NP_478104.2:p.Pro48Arg
LRG_11t1:c.143C>G
LRG_11:g.24807C>G
LRG_11p1:p.Pro48Arg
NC_000009.11:g.21974684G>C
NM_000077.4:c.143C>G

Protein change:

P48R

Links:

dbSNP: rs763804037

NCBI 1000 Genomes Browser:

rs763804037

Molecular consequence:

NM_001363763.2:c.-3-3477C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_058195.4:c.194-3477C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000077.5:c.143C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001195132.2:c.143C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_058197.5:c.143C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Melanoma-pancreatic cancer syndrome
Identifiers:: MONDO: MONDO:0011713; MedGen: C1838547; Orphanet: 404560; OMIM: 606719

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004018588	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Apr 21, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004018588

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Uncertain significance
(Apr 21, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004018588.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Sep 29, 2024

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