NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) AND Thyroxine-binding globulin deficiency

Clinical significance:Uncertain significance (Last evaluated: Mar 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000490381.1

Allele description [Variation Report for NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr)]

NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr)

Gene:
SERPINA7:serpin family A member 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr)
Other names:
TBG-ABORIGINE
HGVS:
  • NC_000023.11:g.106035377C>T
  • NG_021252.1:g.8351G>A
  • NM_000354.6:c.631G>AMANE SELECT
  • NP_000345.2:p.Ala211Thr
  • NC_000023.10:g.105279368C>T
  • NM_000354.5:c.631G>A
  • P05543:p.Ala211Thr
Protein change:
A191T; ALA191THR
Links:
UniProtKB: P05543#VAR_007106; OMIM: 314200.0002; dbSNP: rs2234036
NCBI 1000 Genomes Browser:
rs2234036
Molecular consequence:
  • NM_000354.6:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thyroxine-binding globulin deficiency
Identifiers:
MedGen: C1839141

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267496Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Uncertain significance
(Mar 18, 2016)
germlinereference population

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties.

Takeda K, Mori Y, Sobieszczyk S, Seo H, Dick M, Watson F, Flink IL, Seino S, Bell GI, Refetoff S.

J Clin Invest. 1989 Apr;83(4):1344-8.

PubMed [citation]
PMID:
2495303
PMCID:
PMC303827

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 Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267496.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 3, 2020

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