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NM_000077.5(CDKN2A):c.407dup (p.Thr137fs) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2021
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:
RCV001821674.4

Allele description [Variation Report for NM_000077.5(CDKN2A):c.407dup (p.Thr137fs)]

NM_000077.5(CDKN2A):c.407dup (p.Thr137fs)

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.407dup (p.Thr137fs)
HGVS:
  • NC_000009.12:g.21970957dup
  • NG_007485.1:g.28540dup
  • NM_000077.5:c.407dupMANE SELECT
  • NM_001195132.2:c.407dup
  • NM_001363763.2:c.254dup
  • NM_058195.4:c.*51dup
  • NM_058197.5:c.*330dup
  • NP_000068.1:p.Thr137fs
  • NP_000068.1:p.Thr137fs
  • NP_001182061.1:p.Thr137fs
  • NP_001350692.1:p.Thr86fs
  • LRG_11t1:c.407dup
  • LRG_11:g.28540dup
  • LRG_11p1:p.Thr137fs
  • NC_000009.11:g.21970950_21970951insC
  • NC_000009.11:g.21970956dup
  • NM_000077.4:c.407dup
  • NM_000077.4:c.407dupG
Protein change:
T137fs
Links:
dbSNP: rs749588877
NCBI 1000 Genomes Browser:
rs749588877
Molecular consequence:
  • NM_058195.4:c.*51dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_058197.5:c.*330dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000077.5:c.407dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195132.2:c.407dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363763.2:c.254dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002072021Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 16, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genetic Services Laboratory, University of Chicago, SCV002072021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change results in an amino acid frameshift and creates a premature stop codon 4 amino acids downstream of the change, p.Thr137Hisfs*5. This sequence change results in a stop codon at the 3' end of CDKN2A, is not expected to trigger nonsense-mediated mRNA decay and is expected to modify 4 amino acids and delete the last 16 amino acids of the resultant protein. This sequence change has been described in the gnomAD database with a low population frequency of 0.0020% (dbSNP rs748022323). This sequence change has been reported in a family affected with melanoma (PMID: 19500876) and was not identified in 200 controls. Due to the location of this variant and the prediction that it does not trigger nonsense mediated decay, and the lack of functional studies, the clinical significance of this variant remains unknown at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024