NM_199334.5(THRA):c.788C>T (p.Ala263Val) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 4, 2017
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:: RCV000623448.2

Allele description [Variation Report for NM_199334.5(THRA):c.788C>T (p.Ala263Val)]

NM_199334.5(THRA):c.788C>T (p.Ala263Val)

Gene:

THRA:thyroid hormone receptor alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.1

Genomic location:

Preferred name:

NM_199334.5(THRA):c.788C>T (p.Ala263Val)

HGVS:

NC_000017.11:g.40088306C>T
NG_023345.1:g.31114C>T
NM_001190918.2:c.788C>T
NM_001190919.2:c.788C>T
NM_003250.6:c.788C>T
NM_199334.4:c.788C>T
NM_199334.5:c.788C>TMANE SELECT
NP_001177847.1:p.Ala263Val
NP_001177848.1:p.Ala263Val
NP_003241.2:p.Ala263Val
NP_955366.1:p.Ala263Val
NC_000017.10:g.38244559C>T
NM_003250.5:c.788C>T
NM_199334.3:c.788C>T

Protein change:

A263V

Links:

dbSNP: rs1555545033

NCBI 1000 Genomes Browser:

rs1555545033

Molecular consequence:

NM_001190918.2:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001190919.2:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003250.6:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_199334.5:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000743008	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Oct 4, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000743008

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Oct 4, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/French/German/Swiss/English	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

Moran C, Agostini M, Visser WE, Schoenmakers E, Schoenmakers N, Offiah AC, Poole K, Rajanayagam O, Lyons G, Halsall D, Gurnell M, Chrysis D, Efthymiadou A, Buchanan C, Aylwin S, Chatterjee KK.

Lancet Diabetes Endocrinol. 2014 Aug;2(8):619-26. doi: 10.1016/S2213-8587(14)70111-1. Epub 2014 Jun 23. Erratum in: Lancet Diabetes Endocrinol. 2014 Aug;2(8):e14.

PubMed [citation]

PMID:: 24969835
PMCID:: PMC5989926

Details of each submission

From Ambry Genetics, SCV000743008.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/French/German/Swiss/English	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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