NM_000371.4(TTR):c.212A>C (p.Glu71Ala) AND Amyloidosis, hereditary systemic 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 16, 2022
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:: RCV003098640.2

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]

Condition(s)

Name:: Amyloidosis, hereditary systemic 1 (AMYLD1)
Synonyms:: Amyloidosis Transthyretin related; Amyloid polyneuropathy transthyretin related; Transthyretin amyloidosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0971004; MedGen: C2751492; Orphanet: 85447; Orphanet: 85451; OMIM: 105210

Recent activity

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scavenger receptor class B member 1 isoform 7 [Mus musculus]
scavenger receptor class B member 1 isoform 7 [Mus musculus]
gi|2582814538|ref|NP_001411424.1|

Protein
PREDICTED: Mus musculus scavenger receptor class B, member 1 (Scarb1), transcrip...
PREDICTED: Mus musculus scavenger receptor class B, member 1 (Scarb1), transcript variant X3, mRNA
gi|1720412770|ref|XM_030254308.1|

Nucleotide
PREDICTED: Mus musculus scavenger receptor class B, member 1 (Scarb1), transcrip...
PREDICTED: Mus musculus scavenger receptor class B, member 1 (Scarb1), transcript variant X2, mRNA
gi|1907161635|ref|XM_036164950.1|

Nucleotide
Mauremys reevesii isolate NIE-2019 linkage group 7, ASM1616193v1, whole genome s...
Mauremys reevesii isolate NIE-2019 linkage group 7, ASM1616193v1, whole genome shotgun sequence
gi|1973055755|gnl|ASM:GCF_016162035 |ref|NC_052629.1||gpp|GPC_000009540.1||gnl|NCBI_GENOMES|98615

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003484143	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 16, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003484143

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 16, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003484143.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with TTR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 71 of the TTR protein (p.Glu71Ala).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 25, 2024

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