NM_006749.4(SLC20A2):c.1784C>T (p.Thr595Met) AND Idiopathic basal ganglia calcification 1

Clinical significance:Pathogenic (Last evaluated: Feb 12, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000022666.26

Allele description [Variation Report for NM_006749.4(SLC20A2):c.1784C>T (p.Thr595Met)]

NM_006749.4(SLC20A2):c.1784C>T (p.Thr595Met)

Gene:
SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_006749.4(SLC20A2):c.1784C>T (p.Thr595Met)
HGVS:
  • NC_000008.11:g.42428768G>A
  • NG_032161.1:g.116071C>T
  • NM_006749.4:c.1784C>T
  • NP_006740.1:p.Thr595Met
  • NC_000008.10:g.42286286G>A
Protein change:
T595M; THR595MET
Links:
OMIM: 158378.0005; dbSNP: 387906654
NCBI 1000 Genomes Browser:
rs387906654
Molecular consequence:
  • NM_006749.4:c.1784C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Idiopathic basal ganglia calcification 1 (IBGC1)
Synonyms:
FAHR DISEASE, FAMILIAL; Fahr's syndrome; Basal ganglia calcification, idiopathic, 3; See all synonyms [MedGen]
Identifiers:
Gene: 23706; MedGen: C0393590; Orphanet: 1980; OMIM: 213600
Age of onset:
Adult

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000043955OMIMno assertion criteria providedPathogenic
(Feb 12, 2012)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, et al.

Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077.

PubMed [citation]
PMID:
22327515

Details of each submission

From OMIM, SCV000043955.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Spanish patient with IBGC1 (213600), Wang et al. (2012) identified a heterozygous 1784C-T transition in the SLC20A2 gene, resulting in a thr595-to-met (T595M) substitution in a highly conserved residue in transmembrane domain XI. The mutation was not found in 288 Spanish controls, the 1000 Genomes Project, or 2,439 control exomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in substantially impaired transport of inorganic phosphate.

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

Last Updated: Jun 7, 2016