NM_000222.3(KIT):c.1676T>C (p.Val559Ala) AND Cutaneous mastocytosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2001
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:: RCV000663345.2

Allele description [Variation Report for NM_000222.3(KIT):c.1676T>C (p.Val559Ala)]

NM_000222.3(KIT):c.1676T>C (p.Val559Ala)

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.1676T>C (p.Val559Ala)

HGVS:

NC_000004.12:g.54727444T>C
NG_007456.1:g.74450T>C
NM_000222.3:c.1676T>CMANE SELECT
NM_001093772.2:c.1664T>C
NM_001385284.1:c.1679T>C
NM_001385285.1:c.1676T>C
NM_001385286.1:c.1664T>C
NM_001385288.1:c.1667T>C
NM_001385290.1:c.1679T>C
NM_001385292.1:c.1667T>C
NP_000213.1:p.Val559Ala
NP_001087241.1:p.Val555Ala
NP_001372213.1:p.Val560Ala
NP_001372214.1:p.Val559Ala
NP_001372215.1:p.Val555Ala
NP_001372217.1:p.Val556Ala
NP_001372219.1:p.Val560Ala
NP_001372221.1:p.Val556Ala
LRG_307:g.74450T>C
NC_000004.11:g.55593610T>C
P10721:p.Val559Ala

Protein change:

V555A; VAL559ALA

Links:

UniProtKB: P10721#VAR_033126; OMIM: 164920.0023; dbSNP: rs121913517

NCBI 1000 Genomes Browser:

rs121913517

Molecular consequence:

NM_000222.3:c.1676T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001093772.2:c.1664T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385284.1:c.1679T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385285.1:c.1676T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385286.1:c.1664T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385288.1:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385290.1:c.1679T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385292.1:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cutaneous mastocytosis
Synonyms:: MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS; MASTOCYTOSIS, DIFFUSE CUTANEOUS
Identifiers:: MONDO: MONDO:0019023; MedGen: C1136033; OMIM: 154800; Human Phenotype Ontology: HP:0200151

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000786616	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000786616

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2001)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.

Beghini A, Tibiletti MG, Roversi G, Chiaravalli AM, Serio G, Capella C, Larizza L.

Cancer. 2001 Aug 1;92(3):657-62.

PubMed [citation]

PMID:: 11505412

Details of each submission

From OMIM, SCV000786616.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an Italian man with multiple gastrointestinal stromal tumors (GISTs; 606764) and hyperpigmented spots, Beghini et al. (2001) identified a germline 1697T-C transition in the KIT gene, resulting in a val559-to-ala (V559A) substitution in the juxtamembrane domain. His 14-year-old son, in whom the hyperpigmented lesions had been shown to represent cutaneous mastocytosis (MASTC; 154800), also carried the V559A mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 15, 2024

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