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NM_000222.3(KIT):c.1432A>G (p.Ile478Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 13, 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:
RCV002395320.3

Allele description [Variation Report for NM_000222.3(KIT):c.1432A>G (p.Ile478Val)]

NM_000222.3(KIT):c.1432A>G (p.Ile478Val)

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.1432A>G (p.Ile478Val)
HGVS:
  • NC_000004.12:g.54725942A>G
  • NG_007456.1:g.72948A>G
  • NM_000222.3:c.1432A>GMANE SELECT
  • NM_001093772.2:c.1432A>G
  • NM_001385284.1:c.1435A>G
  • NM_001385285.1:c.1432A>G
  • NM_001385286.1:c.1432A>G
  • NM_001385288.1:c.1435A>G
  • NM_001385290.1:c.1435A>G
  • NM_001385292.1:c.1435A>G
  • NP_000213.1:p.Ile478Val
  • NP_000213.1:p.Ile478Val
  • NP_001087241.1:p.Ile478Val
  • NP_001372213.1:p.Ile479Val
  • NP_001372214.1:p.Ile478Val
  • NP_001372215.1:p.Ile478Val
  • NP_001372217.1:p.Ile479Val
  • NP_001372219.1:p.Ile479Val
  • NP_001372221.1:p.Ile479Val
  • LRG_307t1:c.1432A>G
  • LRG_307:g.72948A>G
  • LRG_307p1:p.Ile478Val
  • NC_000004.11:g.55592108A>G
  • NM_000222.2:c.1432A>G
Protein change:
I478V
Links:
dbSNP: rs1185109256
NCBI 1000 Genomes Browser:
rs1185109256
Molecular consequence:
  • NM_000222.3:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001093772.2:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385284.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385285.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385286.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385288.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385290.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385292.1:c.1435A>G - 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
SCV002701060Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 13, 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, SCV002701060.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024