NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) AND Hereditary cutaneous melanoma

replaced

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 4, 2018
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:: RCV000168263.6

Allele description

NM_000077.4(CDKN2A):c.369T>A (p.His123Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.3

Genomic location:

Preferred name:

NM_000077.4(CDKN2A):c.369T>A (p.His123Gln)

Other names:

p.H123Q:CAT>CAA

HGVS:

NC_000009.12:g.21970990A>T
NG_007485.1:g.28502T>A
NM_000077.4:c.369T>A
NM_001195132.1:c.369T>A
NM_001363763.2:c.216T>A
NM_058195.3:c.*13T>A
NM_058197.4:c.*292T>A
NP_000068.1:p.His123Gln
NP_001182061.1:p.His123Gln
NP_001350692.1:p.His72Gln
LRG_11t1:c.369T>A
LRG_11t2:c.*13T>A
LRG_11:g.28502T>A
LRG_11p1:p.His123Gln
NC_000009.11:g.21970989A>T
P42771:p.His123Gln
p.H123Q

Protein change:

H123Q

Links:

UniProtKB: P42771#VAR_001477; dbSNP: rs6413463

NCBI 1000 Genomes Browser:

rs6413463

Molecular consequence:

NM_058195.3:c.*13T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_058197.4:c.*292T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000077.4:c.369T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195132.1:c.369T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363763.2:c.216T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cutaneous melanoma
Synonyms:: Hereditary melanoma; Familial cutaneous melanoma
Identifiers:: MedGen: C1512419

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000218934	Invitae	criteria provided, single submitter (Nykamp K et al. (Genet Med 2017))	Likely benign (Jan 4, 2018)	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

SCV000218934

Invitae

criteria provided, single submitter

(Nykamp K et al. (Genet Med 2017))

Likely benign
(Jan 4, 2018)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000218934.6

#	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

Last Updated: Nov 2, 2019

ClinVar

Relating variation to medicine