NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND Melanoma-pancreatic cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 12, 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:: RCV000412396.5

Allele description [Variation Report for NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)]

NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)

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.146T>C (p.Ile49Thr)

Other names:

p.I49T:ATC>ACC

HGVS:

NC_000009.12:g.21974682A>G
NG_007485.1:g.24810T>C
NM_000077.5:c.146T>CMANE SELECT
NM_001195132.2:c.146T>C
NM_001363763.2:c.-3-3474T>C
NM_058195.4:c.194-3474T>C
NM_058197.5:c.146T>C
NP_000068.1:p.Ile49Thr
NP_000068.1:p.Ile49Thr
NP_001182061.1:p.Ile49Thr
NP_478104.2:p.Ile49Thr
LRG_11t1:c.146T>C
LRG_11:g.24810T>C
LRG_11p1:p.Ile49Thr
NC_000009.11:g.21974681A>G
NM_000077.4:c.146T>C
P42771:p.Ile49Thr
p.I49T

Protein change:

I49T

Links:

UniProtKB: P42771#VAR_001422; dbSNP: rs199907548

NCBI 1000 Genomes Browser:

rs199907548

Molecular consequence:

NM_001363763.2:c.-3-3474T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_058195.4:c.194-3474T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000077.5:c.146T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195132.2:c.146T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_058197.5:c.146T>C - 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
SCV000488873	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Jul 12, 2016)	unknown	clinical testing	PubMed (8) [See all records that cite these PMIDs] 7647780, 26681309, 25980754, 16234564, 21462282, 10389768, 24733792, 7987387 Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000488873

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Jul 12, 2016)

unknown

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

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

Citations

PubMed

Mutations associated with familial melanoma impair p16INK4 function.

Ranade K, Hussussian CJ, Sikorski RS, Varmus HE, Goldstein AM, Tucker MA, Serrano M, Hannon GJ, Beach D, Dracopoli NC.

Nat Genet. 1995 May;10(1):114-6.

PubMed [citation]

PMID:: 7647780

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Puig S, Potrony M, Cuellar F, Puig-Butille JA, Carrera C, Aguilera P, Nagore E, Garcia-Casado Z, Requena C, Kumar R, Landman G, Costa Soares de Sá B, Gargantini Rezze G, Facure L, de Avila AL, Achatz MI, Carraro DM, Duprat Neto JP, Grazziotin TC, Bonamigo RR, Rey MC, Balestrini C, et al.

Genet Med. 2016 Jul;18(7):727-36. doi: 10.1038/gim.2015.160. Epub 2015 Dec 17.

PubMed [citation]

PMID:: 26681309
PMCID:: PMC4940430

See all PubMed Citations (8)

Details of each submission

From Counsyl, SCV000488873.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

#	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: Oct 13, 2024

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