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NM_000222.3(KIT):c.1445C>A (p.Ala482Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2021
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:
RCV002388738.3

Allele description [Variation Report for NM_000222.3(KIT):c.1445C>A (p.Ala482Glu)]

NM_000222.3(KIT):c.1445C>A (p.Ala482Glu)

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.1445C>A (p.Ala482Glu)
HGVS:
  • NC_000004.12:g.54725955C>A
  • NG_007456.1:g.72961C>A
  • NM_000222.3:c.1445C>AMANE SELECT
  • NM_001093772.2:c.1445C>A
  • NM_001385284.1:c.1448C>A
  • NM_001385285.1:c.1445C>A
  • NM_001385286.1:c.1445C>A
  • NM_001385288.1:c.1448C>A
  • NM_001385290.1:c.1448C>A
  • NM_001385292.1:c.1448C>A
  • NP_000213.1:p.Ala482Glu
  • NP_001087241.1:p.Ala482Glu
  • NP_001372213.1:p.Ala483Glu
  • NP_001372214.1:p.Ala482Glu
  • NP_001372215.1:p.Ala482Glu
  • NP_001372217.1:p.Ala483Glu
  • NP_001372219.1:p.Ala483Glu
  • NP_001372221.1:p.Ala483Glu
  • LRG_307t1:c.1445C>A
  • LRG_307:g.72961C>A
  • NC_000004.11:g.55592121C>A
  • NM_000222.2:c.1445C>A
Protein change:
A482E
Links:
dbSNP: rs2109769025
NCBI 1000 Genomes Browser:
rs2109769025
Molecular consequence:
  • NM_000222.3:c.1445C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001093772.2:c.1445C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385284.1:c.1448C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385285.1:c.1445C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385286.1:c.1445C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385288.1:c.1448C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385290.1:c.1448C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385292.1:c.1448C>A - 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
SCV002699388Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 26, 2021) 		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, SCV002699388.2

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

Description

The p.A482E variant (also known as c.1445C>A), located in coding exon 9 of the KIT gene, results from a C to A substitution at nucleotide position 1445. The alanine at codon 482 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. 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: Sep 29, 2024