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NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) AND Intellectual disability, X-linked 101

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2014
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:
RCV000133396.4

Allele description [Variation Report for NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)]

NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)

Genes:
MID2:midline 2 [Gene - OMIM - HGNC]
LOC101928335:uncharacterized LOC101928335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)
HGVS:
  • NC_000023.11:g.107905593G>A
  • NG_011907.2:g.84740G>A
  • NM_012216.4:c.1040G>AMANE SELECT
  • NM_052817.3:c.1040G>A
  • NP_036348.2:p.Arg347Gln
  • NP_438112.2:p.Arg347Gln
  • NC_000023.10:g.107148823G>A
  • NG_011907.1:g.84740G>A
  • Q9UJV3:p.Arg347Gln
Protein change:
R347Q; ARG347GLN
Links:
UniProtKB: Q9UJV3#VAR_071836; OMIM: 300204.0001; dbSNP: rs587777605
NCBI 1000 Genomes Browser:
rs587777605
Molecular consequence:
  • NM_012216.4:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052817.3:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, X-linked 101 (XLID101)
Identifiers:
MONDO: MONDO:0010489; MedGen: C3890168; Orphanet: 777; OMIM: 300928

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188469OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2014)
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

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.

Geetha TS, Michealraj KA, Kabra M, Kaur G, Juyal RC, Thelma BK.

Hum Mutat. 2014 Jan;35(1):41-4. doi: 10.1002/humu.22453. Epub 2013 Oct 21.

PubMed [citation]
PMID:
24115387

Details of each submission

From OMIM, SCV000188469.3

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

Description

In affected members of a large family from northern India with X-linked intellectual developmental disorder-101 (XLID101; 300928) spanning 3 generations, Geetha et al. (2014) identified a c.1040G-A transition in the MID2 gene, resulting in an arg347-to-gln (R347Q) substitution at a conserved residue in the COS domain, which is responsible for the interaction of the protein with microtubules. The mutation, which was found by a combination of linkage analysis and targeted resequencing of the candidate region, segregated with the disorder in the family. It was not present in the dbSNP (build 135) or Exome Variant Server databases or in 200 controls. Carrier females in the family were unaffected. Transfection of the mutation in HEK293T cells showed abnormal localization of the mutant protein, which was found in aggregate form or enclosed in vesicles in the cytoplasm rather than being bound to microtubules.

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

Last Updated: Aug 5, 2023