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NM_000222.3(KIT):c.2489G>C (p.Arg830Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 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:
RCV003161176.3

Allele description [Variation Report for NM_000222.3(KIT):c.2489G>C (p.Arg830Pro)]

NM_000222.3(KIT):c.2489G>C (p.Arg830Pro)

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.2489G>C (p.Arg830Pro)
HGVS:
  • NC_000004.12:g.54736502G>C
  • NG_007456.1:g.83508G>C
  • NM_000222.2:c.2489G>C
  • NM_000222.3:c.2489G>CMANE SELECT
  • NM_001093772.2:c.2477G>C
  • NM_001385284.1:c.2492G>C
  • NM_001385285.1:c.2486G>C
  • NM_001385286.1:c.2474G>C
  • NM_001385288.1:c.2480G>C
  • NM_001385290.1:c.2489G>C
  • NM_001385292.1:c.2477G>C
  • NP_000213.1:p.Arg830Pro
  • NP_001087241.1:p.Arg826Pro
  • NP_001372213.1:p.Arg831Pro
  • NP_001372214.1:p.Arg829Pro
  • NP_001372215.1:p.Arg825Pro
  • NP_001372217.1:p.Arg827Pro
  • NP_001372219.1:p.Arg830Pro
  • NP_001372221.1:p.Arg826Pro
  • LRG_307t1:c.2489G>C
  • LRG_307:g.83508G>C
  • NC_000004.11:g.55602668G>C
Protein change:
R825P
Links:
dbSNP: rs772311731
NCBI 1000 Genomes Browser:
rs772311731
Molecular consequence:
  • NM_000222.3:c.2489G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001093772.2:c.2477G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385284.1:c.2492G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385285.1:c.2486G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385286.1:c.2474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385288.1:c.2480G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385290.1:c.2489G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385292.1:c.2477G>C - 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
SCV003869083Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 23, 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, SCV003869083.2

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

Description

The p.R830P variant (also known as c.2489G>C), located in coding exon 18 of the KIT gene, results from a G to C substitution at nucleotide position 2489. The arginine at codon 830 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is conserved. 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: Sep 29, 2024