U.S. flag

An official website of the United States government

NM_000077.5(CDKN2A):c.457+1_457+10del AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 5, 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:
RCV001022717.5

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)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001184485Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Sep 5, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001184485.5

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

Description

The c.457+1_457+10del10 intronic variant, located in intron 2 of the CDKN2A gene, results from a deletion of 10 nucleotides at positions c.457+1 to c.457+10. This nucleotide region is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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

Last Updated: Sep 29, 2024