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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 6, 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:
RCV004721454.1

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:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005327067GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 6, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV005327067.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation as the last 20 amino acids are replaced with 4 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Identified in an individual with a personal and family history of melanoma (Bruno et al., 2009); This variant is associated with the following publications: (PMID: 19500876)

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

Last Updated: Oct 8, 2024