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NM_000371.4(TTR):c.88T>C (p.Cys30Arg) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 6, 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:
RCV003298033.3

Allele description [Variation Report for NM_000371.4(TTR):c.88T>C (p.Cys30Arg)]

NM_000371.4(TTR):c.88T>C (p.Cys30Arg)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
Other names:
C10R
HGVS:
  • NC_000018.10:g.31592914T>C
  • NG_009490.1:g.6148T>C
  • NM_000371.4:c.88T>CMANE SELECT
  • NP_000362.1:p.Cys30Arg
  • NP_000362.1:p.Cys30Arg
  • LRG_416t1:c.88T>C
  • LRG_416:g.6148T>C
  • LRG_416p1:p.Cys30Arg
  • NC_000018.9:g.29172877T>C
  • NM_000371.3:c.88T>C
  • P02766:p.Cys30Arg
Protein change:
C30R; CYS10ARG
Links:
UniProtKB: P02766#VAR_007547; OMIM: 176300.0028; dbSNP: rs121918083
NCBI 1000 Genomes Browser:
rs121918083
Molecular consequence:
  • NM_000371.4:c.88T>C - 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
SCV003997335Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 6, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.

Uemichi T, Murrell JR, Zeldenrust S, Benson MD.

J Med Genet. 1992 Dec;29(12):888-91.

PubMed [citation]
PMID:
1362222
PMCID:
PMC1016207

Genetic microheterogeneity of human transthyretin detected by IEF.

Altland K, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P.

Electrophoresis. 2007 Jun;28(12):2053-64.

PubMed [citation]
PMID:
17503405
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV003997335.2

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

Description

The p.C30R variant (also known as c.88T>C), located in coding exon 2 of the TTR gene, results from a T to C substitution at nucleotide position 88. The cysteine at codon 30 is replaced by arginine, an amino acid with highly dissimilar properties. This alteration, which is also known as p.C10R, has been reported in transthyretin (TTR) amyloidosis and related cardiomyopathy cohorts; however, clinical details were limited (Uemichi T et al. J Med Genet, 1992 Dec;29:888-91; Suhr OB et al. Transplantation, 2016 Feb;100:373-81; Ungerer MN et al. Amyloid, 2021 Jun;28:91-99). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 20, 2024