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NM_000077.5(CDKN2A):c.457+1_457+10del AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 20, 2022
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:
RCV003153890.1

Allele description [Variation Report for NM_000077.5(CDKN2A):c.457+1_457+10del]

NM_000077.5(CDKN2A):c.457+1_457+10del

Gene:
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9p21.3
Genomic location:
Preferred name:
NM_000077.5(CDKN2A):c.457+1_457+10del
HGVS:
  • NC_000009.12:g.21970892_21970901del
  • NC_000009.12:g.21970893_21970902del
  • NG_007485.1:g.28591_28600del
  • NM_000077.5:c.457+1_457+10delMANE SELECT
  • NM_001195132.2:c.457+1_457+10del
  • NM_001363763.2:c.304+1_304+10del
  • NM_058195.4:c.*101+1_*101+10del
  • NM_058197.5:c.*380+1_*380+10del
  • LRG_11t1:c.457+1_457+10del
  • LRG_11:g.28591_28600del
  • NC_000009.11:g.21970891_21970900del
  • NC_000009.11:g.21970892_21970901del
  • NM_000077.4:c.457+1_457+10del
  • NM_000077.4:c.457+1_457+10del10
  • NM_000077.5:c.457+1_457+10del10MANE SELECT
Links:
dbSNP: rs1587330284
NCBI 1000 Genomes Browser:
rs1587330284
Molecular consequence:
  • NM_000077.5:c.457+1_457+10del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195132.2:c.457+1_457+10del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363763.2:c.304+1_304+10del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_058195.4:c.*101+1_*101+10del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_058197.5:c.*380+1_*380+10del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV003842611GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Sep 20, 2022) 		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, SCV003842611.1

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

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024