U.S. flag

An official website of the United States government

I655T AND Basal ganglia calcification, idiopathic, 7, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 8, 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:
RCV000754859.1

Allele description [Variation Report for I655T]

I655T

Gene:
MYORG:myogenesis regulating glycosidase (putative) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Preferred name:
I655T
Other names:
I655T
HGVS:
    Protein change:
    ILE655THR
    Links:
    OMIM: 618255.0009

    Condition(s)

    Name:
    Basal ganglia calcification, idiopathic, 7, autosomal recessive
    Identifiers:
    MONDO: MONDO:0032673; MedGen: C5193025; OMIM: 618317

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000882739OMIM
    no assertion criteria provided
    		Pathogenic
    (Feb 8, 2019)     		germlineliterature only

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

    Help

    Summary from all submissions

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

    Citations

    PubMed

    A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.

    Forouhideh Y, Müller K, Ruf W, Assi M, Seker T, Tunca C, Knehr A, Strom TM, Gorges M, Schradt F, Meitinger T, Ludolph AC, Pinkhardt EH, Basak AN, Kassubek J, Uttner I, Weishaupt JH.

    Brain. 2019 Feb 1;142(2):e4. doi: 10.1093/brain/awy343. No abstract available.

    PubMed [citation]
    PMID:
    30649222

    Details of each submission

    From OMIM, SCV000882739.1

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

    Description

    In 4 sibs, born of consanguineous Turkish parents, with autosomal recessive idiopathic basal ganglia calcification-7 (IBGC7; 618317), Forouhideh et al. (2019) identified a homozygous c.1964A-G transition in the MYORG gene, resulting in an ile655-to-thr (I655T) substitution in the putative glucosidase domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was found at a low frequency in the heterozygous state in the gnomAD database (2.5 x 10(-5)). The variant was also found once among 2,380 Turkish control alleles. Functional studies of the variant and studies of patient cells were not performed.

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

    Last Updated: Apr 23, 2022