NM_000549.5(TSHB):c.40A>G (p.Thr14Ala) AND Isolated thyroid-stimulating hormone deficiency

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 10, 2021
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:: RCV000610072.3

Allele description [Variation Report for NM_000549.5(TSHB):c.40A>G (p.Thr14Ala)]

NM_000549.5(TSHB):c.40A>G (p.Thr14Ala)

Gene:

TSHB:thyroid stimulating hormone subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

Preferred name:

NM_000549.5(TSHB):c.40A>G (p.Thr14Ala)

HGVS:

NC_000001.11:g.115033402A>G
NG_015891.1:g.8609A>G
NM_000549.5:c.40A>GMANE SELECT
NP_000540.2:p.Thr14Ala
NP_000540.2:p.Thr14Ala
NC_000001.10:g.115576023A>G
NM_000549.4:c.40A>G
P01222:p.Thr14Ala

Protein change:

T14A

Links:

UniProtKB: P01222#VAR_054769; dbSNP: rs10776792

NCBI 1000 Genomes Browser:

rs10776792

Molecular consequence:

NM_000549.5:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Isolated thyroid-stimulating hormone deficiency
Synonyms:: THYROID-STIMULATING HORMONE DEFICIENCY; Thyrotropin deficiency, isolated; Thyroid-stimulating hormone, deficiency of; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010139; MedGen: C0271789; Orphanet: 90674; OMIM: 275100

Recent activity

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Paf1p [Saccharomyces cerevisiae S288C]
Paf1p [Saccharomyces cerevisiae S288C]
gi|6319756|ref|NP_009838.1|

Protein
CDRT15 (0)
MedGen
TPA_inf: Homo sapiens olfactory receptor OR11-98 gene, complete cds
TPA_inf: Homo sapiens olfactory receptor OR11-98 gene, complete cds
gi|43918784|tpg|BK004349.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000733937	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV002101029	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000733937

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Benign

germline

clinical testing

SCV002101029

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Sep 10, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733937.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From Genome-Nilou Lab, SCV002101029.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 10, 2024

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