NG_032161.2:g.(87059_102191)_(118197_128986)del AND Idiopathic basal ganglia calcification 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 15, 2019
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:: RCV000853094.2

Allele description [Variation Report for NG_032161.2:g.(87059_102191)_(118197_128986)del]

NM_006749.5:c.(613+1_614-1)_(1794+1_1795-1)del

Gene:

SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p11.21

Preferred name:

NM_006749.5:c.(613+1_614-1)_(1794+1_1795-1)del

HGVS:

NG_032161.2:g.(87059_102191)_(118197_128986)del
NM_006749.5:c.(613+1_614-1)_(1794+1_1795-1)del

Nucleotide change:

EX6-10DEL

Links:

OMIM: 158378.0009

Condition(s)

Name:: Idiopathic basal ganglia calcification 1 (IBGC1)
Synonyms:: Fahr's syndrome; Cerebral calcification nonarteriosclerotic idiopathic adult-onset; Striopallidodentate calcinosis autosomal dominant adult-onset; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0024538; MedGen: C4551624; Orphanet: 1980; OMIM: 213600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000995949	OMIM	no assertion criteria provided	Pathogenic (Oct 15, 2019)	germline	literature only	Volpato, C. B., De Grandi, A., Buffone, E., Pichler, I., Gebert, U., Schifferle, G., Schonhuber, R., Pramstaller, P. P. Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC). Am. J. Med. Genet. 147B: 1319-1322, 2008.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000995949

OMIM

no assertion criteria provided

Pathogenic
(Oct 15, 2019)

germline

literature only

Volpato, C. B., De Grandi, A., Buffone, E., Pichler, I., Gebert, U., Schifferle, G., Schonhuber, R., Pramstaller, P. P. Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC). Am. J. Med. Genet. 147B: 1319-1322, 2008.

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

Details of each submission

From OMIM, SCV000995949.1

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

Description

In affected members of an Italian family with idiopathic basal ganglia calcification-1 (IBGC1; 213600), originally reported by Volpato et al. (2008), Grutz et al. (2016) identified heterozygosity for a large deletion encompassing exons 6 to 10 in the SLC20A2 gene. The mutation, c.(613+1_614-1)_(1794+1_1795-1)del, was predicted to result in a frameshift (Val205GlyfsTer65).

#	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: Dec 24, 2023

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