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NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) AND Intellectual disability

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000224792.2

Allele description [Variation Report for NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)]

NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)

Gene:
SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.2
Genomic location:
Preferred name:
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)
HGVS:
  • NC_000023.11:g.74529232T>C
  • NG_011641.2:g.112983T>C
  • NM_006517.5:c.1190T>CMANE SELECT
  • NP_006508.2:p.Leu397Pro
  • NC_000023.10:g.73749067T>C
  • NG_011641.1:g.112983T>C
  • NM_006517.3:c.1412T>C
  • P36021:p.Leu397Pro
  • g.73749067T>C
Protein change:
L397P; LEU397PRO
Links:
UniProtKB: P36021#VAR_022349; OMIM: 300095.0005; dbSNP: rs122455132
NCBI 1000 Genomes Browser:
rs122455132
Molecular consequence:
  • NM_006517.5:c.1190T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000281740Diagnostic Laboratory, Strasbourg University Hospital
criteria provided, single submitter

(submitter's publication)		Pathogenic
(Jul 25, 2014) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes2not providednot provided106not providedclinical testing

Citations

PubMed

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, et al.

J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28.

PubMed [citation]
PMID:
25167861
PMCID:
PMC4215287

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV000281740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

"One brother affected who has the same mutation"

PubMed [ID: 25167861]

Description

present in the affected brother

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes106not providednot provided2not providednot providednot provided

Last Updated: Sep 30, 2023