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NM_000222.3(KIT):c.1351T>C (p.Ser451Pro) AND KIT-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 28, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003409631.5

Allele description [Variation Report for NM_000222.3(KIT):c.1351T>C (p.Ser451Pro)]

NM_000222.3(KIT):c.1351T>C (p.Ser451Pro)

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.1351T>C (p.Ser451Pro)
HGVS:
  • NC_000004.12:g.54725861T>C
  • NG_007456.1:g.72867T>C
  • NM_000222.3:c.1351T>CMANE SELECT
  • NM_001093772.2:c.1351T>C
  • NM_001385284.1:c.1354T>C
  • NM_001385285.1:c.1351T>C
  • NM_001385286.1:c.1351T>C
  • NM_001385288.1:c.1354T>C
  • NM_001385290.1:c.1354T>C
  • NM_001385292.1:c.1354T>C
  • NP_000213.1:p.Ser451Pro
  • NP_000213.1:p.Ser451Pro
  • NP_001087241.1:p.Ser451Pro
  • NP_001372213.1:p.Ser452Pro
  • NP_001372214.1:p.Ser451Pro
  • NP_001372215.1:p.Ser451Pro
  • NP_001372217.1:p.Ser452Pro
  • NP_001372219.1:p.Ser452Pro
  • NP_001372221.1:p.Ser452Pro
  • LRG_307t1:c.1351T>C
  • LRG_307:g.72867T>C
  • LRG_307p1:p.Ser451Pro
  • NC_000004.11:g.55592027T>C
  • NM_000222.2:c.1351T>C
Protein change:
S451P
Links:
dbSNP: rs145183977
NCBI 1000 Genomes Browser:
rs145183977
Molecular consequence:
  • NM_000222.3:c.1351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001093772.2:c.1351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385284.1:c.1354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385285.1:c.1351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385286.1:c.1351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385288.1:c.1354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385290.1:c.1354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385292.1:c.1354T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
KIT-related disorder
Synonyms:
KIT-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004113372PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jun 28, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004113372.2

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

Description

The KIT c.1351T>C variant is predicted to result in the amino acid substitution p.Ser451Pro. This variant has been reported in a cohort study of individuals with cutaneous melanoma and at least two independent additional primary cancers (Supplemental Data, Pritchard et al. 2018. PubMed ID: 29641532). This variant is reported in 0.0047% of alleles in individuals of European (Non-Finnish) descent in gnomAD and interpreted as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/409718/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024