NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) AND Gastrointestinal stromal tumor

Germline classification:: Uncertain significance (1 submission)
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:: RCV000144916.2

Allele description [Variation Report for NM_194255.4(SLC19A1):c.80A>G (p.His27Arg)]

NM_194255.4(SLC19A1):c.80A>G (p.His27Arg)

Gene:

SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_194255.4(SLC19A1):c.80A>G (p.His27Arg)

Other names:

RFC G80A

HGVS:

NC_000021.9:g.45537880T>C
NG_028278.2:g.30264A>G
NM_001205206.4:c.80A>G
NM_001352510.2:c.-279A>G
NM_001352511.3:c.80A>G
NM_001352512.2:c.80A>G
NM_194255.4:c.80A>GMANE SELECT
NP_001192135.1:p.His27Arg
NP_001339440.1:p.His27Arg
NP_001339441.1:p.His27Arg
NP_919231.1:p.His27Arg
NC_000021.8:g.46957794T>C
NC_000021.8:g.46957794T>C
P41440:p.His27Arg

Protein change:

H27R

Links:

UniProtKB: P41440#VAR_020210; dbSNP: rs1051266

NCBI 1000 Genomes Browser:

rs1051266

Molecular consequence:

NM_001352510.2:c.-279A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001205206.4:c.80A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352511.3:c.80A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352512.2:c.80A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_194255.4:c.80A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Gastrointestinal stromal tumor
Synonyms:: Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
Identifiers:: MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000187672	Department of Pharmacy and Biotechnology, University of Bologna	no assertion criteria provided	Uncertain significance	germline	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000187672

Department of Pharmacy and Biotechnology, University of Bologna

no assertion criteria provided

Uncertain significance

germline

case-control

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	yes	38	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

Angelini S, Ravegnini G, Nannini M, Bermejo JL, Musti M, Pantaleo MA, Fumagalli E, Venturoli N, Palassini E, Consolini N, Casali PG, Biasco G, Hrelia P.

Eur J Hum Genet. 2015 Jun;23(6):817-23. doi: 10.1038/ejhg.2014.198. Epub 2014 Sep 17.

PubMed [citation]

PMID:: 25227144
PMCID:: PMC4795063

Details of each submission

From Department of Pharmacy and Biotechnology, University of Bologna, SCV000187672.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	38	not provided	not provided	case-control	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		38	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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