U.S. flag

An official website of the United States government

NM_000371.4(TTR):c.88T>G (p.Cys30Gly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 2020
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:
RCV002376066.2

Allele description [Variation Report for NM_000371.4(TTR):c.88T>G (p.Cys30Gly)]

NM_000371.4(TTR):c.88T>G (p.Cys30Gly)

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>G (p.Cys30Gly)
HGVS:
  • NC_000018.10:g.31592914T>G
  • NG_009490.1:g.6148T>G
  • NM_000371.4:c.88T>GMANE SELECT
  • NP_000362.1:p.Cys30Gly
  • NP_000362.1:p.Cys30Gly
  • LRG_416t1:c.88T>G
  • LRG_416:g.6148T>G
  • LRG_416p1:p.Cys30Gly
  • NC_000018.9:g.29172877T>G
  • NM_000371.3:c.88T>G
Protein change:
C30G
Molecular consequence:
  • NM_000371.4:c.88T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002687228Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 12, 2020) 		germlineclinical testing

PubMed (2)
[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

Structures of human transthyretin complexed with thyroxine at 2.0 A resolution and 3',5'-dinitro-N-acetyl-L-thyronine at 2.2 A resolution.

Wojtczak A, Cody V, Luft JR, Pangborn W.

Acta Crystallogr D Biol Crystallogr. 1996 Jul 1;52(Pt 4):758-65.

PubMed [citation]
PMID:
15299640

Cryo-EM structure of a transthyretin-derived amyloid fibril from a patient with hereditary ATTR amyloidosis.

Schmidt M, Wiese S, Adak V, Engler J, Agarwal S, Fritz G, Westermark P, Zacharias M, Fändrich M.

Nat Commun. 2019 Nov 1;10(1):5008. doi: 10.1038/s41467-019-13038-z.

PubMed [citation]
PMID:
31676763
PMCID:
PMC6825171

Details of each submission

From Ambry Genetics, SCV002687228.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.C30G variant (also known as c.88T>G), located in coding exon 2 of the TTR gene, results from a T to G substitution at nucleotide position 88. The cysteine at codon 30 is replaced by glycine, an amino acid with highly dissimilar properties. Based on internal structural analysis, this variant does not appear to have a substantial impact on the structure or interactions of TTR in the soluble or amyloid form (Wojtczak A et al. Acta Crystallogr D Biol Crystallogr, 1996 Jul;52:758-65; Schmidt M et al. Nat Commun, 2019 11;10:5008). 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: May 1, 2024