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NM_000371.3(TTR):c.133G>A (p.Ala45Thr) AND Amyloidogenic transthyretin amyloidosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1992
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:
RCV000014379.23

Allele description

NM_000371.3(TTR):c.133G>A (p.Ala45Thr)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.3(TTR):c.133G>A (p.Ala45Thr)
HGVS:
  • NC_000018.10:g.31592959G>A
  • NG_009490.1:g.6193G>A
  • NM_000371.3:c.133G>A
  • NP_000362.1:p.Ala45Thr
  • LRG_416t1:c.133G>A
  • LRG_416:g.6193G>A
  • LRG_416p1:p.Ala45Thr
  • NC_000018.9:g.29172922G>A
Protein change:
A45T; ALA45THR
Links:
OMIM: 176300.0021; dbSNP: rs104894664
NCBI 1000 Genomes Browser:
rs104894664
Molecular consequence:
  • NM_000371.3:c.133G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Amyloidogenic transthyretin amyloidosis (TTR)
Synonyms:
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; Hereditary oculoleptomeningeal amyloid angiopathy; AMYLOID CARDIOMYOPATHY; See all synonyms [MedGen]
Identifiers:
MedGen: C2751492; Orphanet: 85447; Orphanet: 85451; OMIM: 105210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034628OMIM
no assertion criteria provided
Pathogenic
(May 1, 1992) 		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

A new transthyretin mutation associated with amyloid cardiomyopathy.

Saraiva MJ, Almeida Mdo R, Sherman W, Gawinowicz M, Costa P, Costa PP, Goodman DS.

Am J Hum Genet. 1992 May;50(5):1027-30.

PubMed [citation]
PMID:
1570831
PMCID:
PMC1682590

Details of each submission

From OMIM, SCV000034628.1

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

Description

In a 58-year-old male of Irish and Italian descent with amyloidosis (105210) who first presented with an enlarged heart at age 50, Saraiva et al. (1992) demonstrated a G-to-A transition in codon 45 of the TTR gene, predicted to result in substitution of threonine for alanine (A45T). The patient began to show persistent diarrhea and genitourinary disturbances at the age of 53 years. Heart failure had its onset at age 54 years. Although there were no ocular symptoms or peripheral neuropathy, biopsies of skin, rectal fat, and bladder all showed the presence of amyloid. His mother was reported to have died of amyloidosis, and one sister, aged 54 years, had pedal edema. A maternal aunt also died of amyloid heart disease, confirmed at autopsy.

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

Last Updated: Apr 27, 2018