U.S. flag

An official website of the United States government

NM_000371.4(TTR):c.416C>T (p.Thr139Met) AND Hyperthyroxinemia, dystransthyretinemic

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 1, 2023
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:
RCV003993656.1

Allele description [Variation Report for NM_000371.4(TTR):c.416C>T (p.Thr139Met)]

NM_000371.4(TTR):c.416C>T (p.Thr139Met)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
Other names:
T119M; p.T139M:ACG>ATG
HGVS:
  • NC_000018.10:g.31598647C>T
  • NG_009490.1:g.11881C>T
  • NM_000371.4:c.416C>TMANE SELECT
  • NP_000362.1:p.Thr139Met
  • NP_000362.1:p.Thr139Met
  • LRG_416t1:c.416C>T
  • LRG_416:g.11881C>T
  • LRG_416p1:p.Thr139Met
  • NC_000018.9:g.29178610C>T
  • NM_000371.3:c.416C>T
  • P02766:p.Thr139Met
  • c.416C>T
Protein change:
T139M; THR119MET
Links:
UniProtKB: P02766#VAR_007599; OMIM: 176300.0018; dbSNP: rs28933981
NCBI 1000 Genomes Browser:
rs28933981
Molecular consequence:
  • NM_000371.4:c.416C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperthyroxinemia, dystransthyretinemic
Synonyms:
HYPERTHYROXINEMIA, DYSPREALBUMINEMIC; Dystransthyretinemic euthyroidal hyperthyroxinemia; EUTHRYROIDAL HYPERTHYROXINEMIA 2
Identifiers:
MONDO: MONDO:0007785; MedGen: C2750824; OMIM: 145680

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004809208Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
criteria provided, single submitter

(ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020)
Likely pathogenic
(Sep 1, 2023)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Thyroxine binding in a TTR Met 119 kindred.

Alves IL, Divino CM, Schussler GC, Altland K, Almeida MR, Palha JA, Coelho T, Costa PP, Saraiva MJ.

J Clin Endocrinol Metab. 1993 Aug;77(2):484-8.

PubMed [citation]
PMID:
8102146

Whole-genome sequence-based analysis of thyroid function.

Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, et al.

Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681. Erratum in: Nat Commun. 2015 May 20;6:7172. doi: 10.1038/ncomms8172. Lotchkova, Valentina [corrected to Iotchkova, Valentina]; Quai, Michael A [corrected to Quail, Michael].

PubMed [citation]
PMID:
25743335
PMCID:
PMC4366514
See all PubMed Citations (5)

Details of each submission

From Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service, SCV004809208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (5)

Description

PS3,PS4_Moderate,PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024