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NM_000077.5(CDKN2A):c.148C>A (p.Gln50Lys) AND Melanoma, cutaneous malignant, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 2, 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:
RCV000709072.3

Allele description [Variation Report for NM_000077.5(CDKN2A):c.148C>A (p.Gln50Lys)]

NM_000077.5(CDKN2A):c.148C>A (p.Gln50Lys)

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.148C>A (p.Gln50Lys)
HGVS:
  • NC_000009.12:g.21974680G>T
  • NG_007485.1:g.24812C>A
  • NM_000077.5:c.148C>AMANE SELECT
  • NM_001195132.2:c.148C>A
  • NM_001363763.2:c.-3-3472C>A
  • NM_058195.4:c.194-3472C>A
  • NM_058197.5:c.148C>A
  • NP_000068.1:p.Gln50Lys
  • NP_001182061.1:p.Gln50Lys
  • NP_478104.2:p.Gln50Lys
  • LRG_11:g.24812C>A
  • NC_000009.11:g.21974679G>T
Protein change:
Q50K
Links:
dbSNP: rs864622636
NCBI 1000 Genomes Browser:
rs864622636
Molecular consequence:
  • NM_001363763.2:c.-3-3472C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058195.4:c.194-3472C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000077.5:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195132.2:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058197.5:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Melanoma, cutaneous malignant, susceptibility to, 2
Synonyms:
Cutaneous malignant melanoma 2
Identifiers:
MONDO: MONDO:0007964; MedGen: C1835044; Orphanet: 618; OMIM: 155601

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000838332Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)
Uncertain significance
(Jul 2, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV000838332.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024