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NM_000371.4(TTR):c.241G>A (p.Glu81Lys) AND Cardiovascular phenotype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 30, 2019
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:
RCV002453259.2

Allele description [Variation Report for NM_000371.4(TTR):c.241G>A (p.Glu81Lys)]

NM_000371.4(TTR):c.241G>A (p.Glu81Lys)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.4(TTR):c.241G>A (p.Glu81Lys)
Other names:
E61K
HGVS:
  • NC_000018.10:g.31595160G>A
  • NG_009490.1:g.8394G>A
  • NM_000371.4:c.241G>AMANE SELECT
  • NP_000362.1:p.Glu81Lys
  • LRG_416t1:c.241G>A
  • LRG_416:g.8394G>A
  • NC_000018.9:g.29175123G>A
  • NM_000371.3:c.241G>A
  • P02766:p.Glu81Lys
Protein change:
E81K; GLU61LYS
Links:
UniProtKB: P02766#VAR_007574; OMIM: 176300.0031; dbSNP: rs121918086
NCBI 1000 Genomes Browser:
rs121918086
Molecular consequence:
  • NM_000371.4:c.241G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002736015Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Jan 30, 2019) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families.

Planté-Bordeneuve V, Carayol J, Ferreira A, Adams D, Clerget-Darpoux F, Misrahi M, Said G, Bonaïti-Pellié C.

J Med Genet. 2003 Nov;40(11):e120. No abstract available.

PubMed [citation]
PMID:
14627687
PMCID:
PMC1735318

Cardiomyopathy in a Japanese family with the Glu61Lys transthyretin variant: a new phenotype.

Noto Y, Tokuda T, Shiga K, Tsuchiya A, Yazaki M, Matoba S, Nakagawa M.

Amyloid. 2009;16(2):99-102. doi: 10.1080/13506120902879335.

PubMed [citation]
PMID:
20536403
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV002736015.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.E81K variant (also known as c.241G>A), located in coding exon 3 of the TTR gene, results from a G to A substitution at nucleotide position 241. The glutamic acid at codon 81 is replaced by lysine, an amino acid with similar properties. This variant (also referred to as Glu61lys) has been reported in TTR amyloidosis cohorts and in individuals reported to have transthyretin amyloidosis characterized by later onset sensory-autonomic polyneuropathy and cardiomyopathy (Planté-Bordeneuve V et al. J. Med. Genet., 2003 Nov;40:e120; Noto Y et al. Amyloid, 2009;16:99-102; Hagenacker T et al. J. Neurol. Sci., 2014 Nov;346:331-2; Murakami T et al. J. Neurol. Sci., 2017 Oct;381:55-58; Nakano Y et al. J. Neurol. Sci., 2018 Jul;390:22-25). In addition, another variant affecting this codon (p.E81G, c.242A>G and referred to as Glu61Gly) has also been reported in an individual with transthyretin amyloidosis (Rosenzweig M et al. Amyloid, 2007 Mar;14:65-71). In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Aug 25, 2024