NM_000371.4(TTR):c.218G>A (p.Gly73Glu) AND AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 10, 2001
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000014404.24

Allele description [Variation Report for NM_000371.4(TTR):c.218G>A (p.Gly73Glu)]

NM_000371.4(TTR):c.218G>A (p.Gly73Glu)

Gene:

TTR:transthyretin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_000371.4(TTR):c.218G>A (p.Gly73Glu)

Other names:

G53E

HGVS:

NC_000018.10:g.31595137G>A
NG_009490.1:g.8371G>A
NM_000371.4:c.218G>AMANE SELECT
NP_000362.1:p.Gly73Glu
LRG_416:g.8371G>A
NC_000018.9:g.29175100G>A
P02766:p.Gly73Glu

Protein change:

G73E; GLY53GLU

Links:

UniProtKB: P02766#VAR_038975; OMIM: 176300.0046; dbSNP: rs121918097

NCBI 1000 Genomes Browser:

rs121918097

Molecular consequence:

NM_000371.4:c.218G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
Identifiers:: MedGen: C3151470

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034653	OMIM	no assertion criteria provided	Pathogenic (Jul 10, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034653

OMIM

no assertion criteria provided

Pathogenic
(Jul 10, 2001)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).

Ellie E, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S.

Neurology. 2001 Jul 10;57(1):135-7.

PubMed [citation]

PMID:: 11445644

Details of each submission

From OMIM, SCV000034653.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 3 French sibs with leptomeningeal amyloidosis (see 105210), Ellie et al. (2001) identified a heterozygous G-to-A transition in the TTR gene, resulting in the replacement of glycine by glutamic acid at codon 53 (G53E). Two of the patients experienced recurrent subarachnoid hemorrhages and the third had headaches and episodic weakness and dysphasia. MRI of all 3 patients showed leptomeningeal enhancement.

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

Last Updated: Nov 5, 2022

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