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NM_000077.5(CDKN2A):c.233T>C (p.Leu78Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 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:
RCV000574845.3

Allele description [Variation Report for NM_000077.5(CDKN2A):c.233T>C (p.Leu78Pro)]

NM_000077.5(CDKN2A):c.233T>C (p.Leu78Pro)

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.233T>C (p.Leu78Pro)
HGVS:
  • NC_000009.12:g.21971126A>G
  • NG_007485.1:g.28366T>C
  • NM_000077.5:c.233T>CMANE SELECT
  • NM_001195132.2:c.233T>C
  • NM_001363763.2:c.80T>C
  • NM_058195.4:c.276T>C
  • NM_058197.5:c.*156T>C
  • NP_000068.1:p.Leu78Pro
  • NP_000068.1:p.Leu78Pro
  • NP_001182061.1:p.Leu78Pro
  • NP_001350692.1:p.Leu27Pro
  • NP_478102.2:p.Ser92=
  • LRG_11t1:c.233T>C
  • LRG_11:g.28366T>C
  • LRG_11p1:p.Leu78Pro
  • NC_000009.11:g.21971125A>G
  • NM_000077.4:c.233T>C
Protein change:
L27P
Links:
dbSNP: rs1554654118
NCBI 1000 Genomes Browser:
rs1554654118
Molecular consequence:
  • NM_058197.5:c.*156T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000077.5:c.233T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195132.2:c.233T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363763.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058195.4:c.276T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000669219Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 7, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000669219.5

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

Description

The p.L78P variant (also known as c.233T>C), located in coding exon 2 of the CDKN2A gene, results from a T to C substitution at nucleotide position 233. The leucine at codon 78 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024