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NM_000371.4(TTR):c.212A>C (p.Glu71Ala) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 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:
RCV002417739.1

Allele description

NM_000371.4(TTR):c.212A>C (p.Glu71Ala)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.4(TTR):c.212A>C (p.Glu71Ala)
HGVS:
  • NC_000018.10:g.31595131A>C
  • NG_009490.1:g.8365A>C
  • NM_000371.4:c.212A>CMANE SELECT
  • NP_000362.1:p.Glu71Ala
  • NP_000362.1:p.Glu71Ala
  • LRG_416t1:c.212A>C
  • LRG_416:g.8365A>C
  • LRG_416p1:p.Glu71Ala
  • NC_000018.9:g.29175094A>C
  • NM_000371.3:c.212A>C
Protein change:
E71A
Molecular consequence:
  • NM_000371.4:c.212A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002728996Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Aug 19, 2020) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.

Lahuerta Pueyo C, Aibar Arregui MÁ, Gracia Gutierrez A, Bueno Juana E, Menao Guillén S.

Eur J Hum Genet. 2019 May;27(5):783-791. doi: 10.1038/s41431-019-0337-1. Epub 2019 Jan 25.

PubMed [citation]
PMID:
30683924
PMCID:
PMC6461877

Details of each submission

From Ambry Genetics, SCV002728996.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.E71A variant (also known as c.212A>C), located in coding exon 3 of the TTR gene, results from an A to C substitution at nucleotide position 212. The glutamic acid at codon 71 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, alanine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024