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NM_000222.3(KIT):c.52C>T (p.Leu18Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 29, 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:
RCV001023887.11

Allele description [Variation Report for NM_000222.3(KIT):c.52C>T (p.Leu18Phe)]

NM_000222.3(KIT):c.52C>T (p.Leu18Phe)

Gene:
KIT:KIT proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000222.3(KIT):c.52C>T (p.Leu18Phe)
HGVS:
  • NC_000004.12:g.54658066C>T
  • NG_007456.1:g.5073C>T
  • NM_000222.3:c.52C>TMANE SELECT
  • NM_001093772.2:c.52C>T
  • NM_001385284.1:c.52C>T
  • NM_001385285.1:c.52C>T
  • NM_001385286.1:c.52C>T
  • NM_001385288.1:c.52C>T
  • NM_001385290.1:c.52C>T
  • NM_001385292.1:c.52C>T
  • NP_000213.1:p.Leu18Phe
  • NP_000213.1:p.Leu18Phe
  • NP_001087241.1:p.Leu18Phe
  • NP_001372213.1:p.Leu18Phe
  • NP_001372214.1:p.Leu18Phe
  • NP_001372215.1:p.Leu18Phe
  • NP_001372217.1:p.Leu18Phe
  • NP_001372219.1:p.Leu18Phe
  • NP_001372221.1:p.Leu18Phe
  • LRG_307t1:c.52C>T
  • LRG_307:g.5073C>T
  • LRG_307p1:p.Leu18Phe
  • NC_000004.11:g.55524233C>T
  • NM_000222.2:c.52C>T
Protein change:
L18F
Links:
dbSNP: rs370787811
NCBI 1000 Genomes Browser:
rs370787811
Molecular consequence:
  • NM_000222.3:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001093772.2:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385284.1:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385285.1:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385286.1:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385288.1:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385290.1:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385292.1:c.52C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001185827Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 29, 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, SCV001185827.5

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

Description

The p.L18F variant (also known as c.52C>T), located in coding exon 1 of the KIT gene, results from a C to T substitution at nucleotide position 52. The leucine at codon 18 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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: Nov 24, 2024