NM_006749.4(SLC20A2):c.1828_1831delTCCC (p.Ser610Alafs) AND Idiopathic basal ganglia calcification 1

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2013)

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:
RCV000066206.26

Allele description [Variation Report for NM_006749.4(SLC20A2):c.1828_1831delTCCC (p.Ser610Alafs)]

NM_006749.4(SLC20A2):c.1828_1831delTCCC (p.Ser610Alafs)

Gene:
SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_006749.4(SLC20A2):c.1828_1831delTCCC (p.Ser610Alafs)
HGVS:
  • NC_000008.11:g.42417931_42417934delGGGA
  • NG_032161.1:g.126905_126908delTCCC
  • NM_006749.4:c.1828_1831delTCCC
  • NP_006740.1:p.Ser610Alafs
  • NC_000008.10:g.42275449_42275452delGGGA
Links:
OMIM: 158378.0007; dbSNP: 398122396
NCBI 1000 Genomes Browser:
rs398122396
Molecular consequence:
  • NM_006749.4:c.1828_1831delTCCC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Idiopathic basal ganglia calcification 1 (IBGC1)
Synonyms:
Fahr's syndrome; Basal ganglia calcification, idiopathic, 3; Primary Familial Brain Calcification; See all synonyms [MedGen]
Identifiers:
Gene: 23706; MedGen: C0393590; Orphanet: 1980; OMIM: 213600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000105918OMIMno assertion criteria providedPathogenic
(Feb 1, 2013)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.

Brodaty H, Mitchell P, Luscombe G, Kwok JJ, Badenhop RF, McKenzie R, Schofield PR.

Hum Genet. 2002 Jan;110(1):8-14. Epub 2001 Dec 4.

PubMed [citation]
PMID:
11810290

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, et al.

Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20.

PubMed [citation]
PMID:
23334463
PMCID:
PMC4023541

Details of each submission

From OMIM, SCV000105918.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 9 affected members of a family (F2) with IBGC1 (213600), originally reported by Brodaty et al. (2002), Hsu et al. (2013) identified a heterozygous 4-bp deletion (c.1828_1831delTCCC) in exon 11 of the SLC20A2 gene, resulting in a frameshift and premature termination (Ser610AlafsTer17). The variant was not present in the dbSNP, NHLBI Exome Variant Server, or 1000 Genomes Project databases. One clinically affected family member did not carry the mutation.

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

Last Updated: Sep 5, 2017