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NM_000371.4(TTR):c.400T>C (p.Tyr134His) AND Carpal tunnel syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 1994
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:
RCV000014391.25

Allele description [Variation Report for NM_000371.4(TTR):c.400T>C (p.Tyr134His)]

NM_000371.4(TTR):c.400T>C (p.Tyr134His)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.4(TTR):c.400T>C (p.Tyr134His)
Other names:
Y114H
HGVS:
  • NC_000018.10:g.31598631T>C
  • NG_009490.1:g.11865T>C
  • NM_000371.4:c.400T>CMANE SELECT
  • NP_000362.1:p.Tyr134His
  • LRG_416:g.11865T>C
  • NC_000018.9:g.29178594T>C
  • P02766:p.Tyr134His
Protein change:
Y134H; TYR114HIS
Links:
UniProtKB: P02766#VAR_007598; OMIM: 176300.0033; dbSNP: rs121918088
NCBI 1000 Genomes Browser:
rs121918088
Molecular consequence:
  • NM_000371.4:c.400T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Carpal tunnel syndrome 1 (CTS1)
Synonyms:
Carpal tunnel syndrome, familial
Identifiers:
MONDO: MONDO:0020730; MedGen: C5779776; OMIM: 115430

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034640OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 1994) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.

Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M.

Neurology. 1994 Feb;44(2):315-8.

PubMed [citation]
PMID:
8309582

Details of each submission

From OMIM, SCV000034640.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Murakami et al. (1994) presented the cases of a 68-year-old Japanese woman and her 67-year-old brother with carpal tunnel syndrome (115430). At the time of surgical carpal tunnel release, Congo-red stained biopsy material was obtained demonstrating the presence of amyloid. There were no other neurologic abnormalities, no orthostatic hypotension, no gastrointestinal problems or sphincter disturbances, and no vitreous opacities. The father, who had had symptoms of carpal tunnel syndrome, died at the age of 76 of pneumonia. Single-strand conformation polymorphism analysis and sequence analysis of PCR-amplified exons of the TTR gene revealed a T-to-C transition converting codon 114 from TAC (tyr) to CAC (his) (Y114H). The same codon is involved in a tyr-to-cys mutation (176300.0011) in which the manifestations are more characteristic of amyloid polyneuropathy.

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

Last Updated: Dec 2, 2023