NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter) AND Allan-Herndon-Dudley syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2008
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:: RCV000012406.23

Allele description [Variation Report for NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter)]

NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter)

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.1121C>A (p.Ser374Ter)

Other names:

S448*

HGVS:

NC_000023.11:g.74525844C>A
NG_011641.1:g.109595C>A
NG_011641.2:g.109595C>A
NM_006517.5:c.1121C>AMANE SELECT
NP_006508.2:p.Ser374Ter
NC_000023.10:g.73745679C>A

Protein change:

S374*; SER448TER

Links:

OMIM: 300095.0009; dbSNP: rs104894940

NCBI 1000 Genomes Browser:

rs104894940

Molecular consequence:

NM_006517.5:c.1121C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Allan-Herndon-Dudley syndrome (AHDS)
Synonyms:: T3 RESISTANCE; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010354; MedGen: C0795889; Orphanet: 59; OMIM: 300523

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032640	OMIM	no assertion criteria provided	Pathogenic (May 1, 2008)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15889350, 18187543

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032640

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2008)

germline

literature only

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

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

Citations

PubMed

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE.

Am J Hum Genet. 2005 Jul;77(1):41-53. Epub 2005 May 11.

PubMed [citation]

PMID:: 15889350
PMCID:: PMC1226193

Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.

Jansen J, Friesema EC, Kester MH, Schwartz CE, Visser TJ.

Endocrinology. 2008 May;149(5):2184-90. doi: 10.1210/en.2007-1475. Epub 2008 Jan 10.

PubMed [citation]

PMID:: 18187543
PMCID:: PMC2734492

Details of each submission

From OMIM, SCV000032640.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In family K8900 with Allan-Herndon-Dudley syndrome (AHDS; 300523), which had lived for many generations in Mississippi and was presumed to be of western European white ancestry, Schwartz et al. (2005) found that the disorder was related to a 1343C-A transversion in exon 4 of the MCT8 gene that gave rise to a nonsense mutation, ser448 to stop (S448X), in the protein.

By in vitro cellular studies, Jansen et al. (2008) found that the S448X mutant was mostly retained in the cytoplasm and had less than 5% activity of wildtype. Patients with the S448X mutation did not acquire independent walking or speech development, consistent with a severe loss of transporter activity.

#	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: Apr 23, 2022

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