NM_021871.4(FGA):c.1718G>T (p.Arg573Leu) AND FGA-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 7, 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:: RCV004528118.1

Allele description [Variation Report for NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)]

NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)

Gene:

FGA:fibrinogen alpha chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.3

Genomic location:

Preferred name:

NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)

Other names:

R554L

HGVS:

NC_000004.12:g.154585711C>A
NG_008832.1:g.10035G>T
NM_000508.4:c.1718G>T
NM_000508.5:c.1718G>T
NM_021871.4:c.1718G>TMANE SELECT
NP_000499.1:p.Arg573Leu
NP_068657.1:p.Arg573Leu
LRG_557t1:c.1718G>T
LRG_557t2:c.1718G>T
LRG_557:g.10035G>T
LRG_557p1:p.Arg573Leu
NC_000004.11:g.155506863C>A
NM_021871.2:c.1718G>T
P02671:p.Arg573Leu

Protein change:

R573L; ARG554LEU

Links:

UniProtKB: P02671#VAR_010732; OMIM: 134820.0012; dbSNP: rs78506343

NCBI 1000 Genomes Browser:

rs78506343

Molecular consequence:

NM_000508.5:c.1718G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021871.4:c.1718G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: FGA-related disorder
Synonyms:: FGA-Related Disorders; FGA-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004104329	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 7, 2023)	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

SCV004104329

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 7, 2023)

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004104329.1

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

Description

The FGA c.1718G>T variant is predicted to result in the amino acid substitution p.Arg573Leu. This variant is also described using legacy nomenclature as p.Arg554Leu, has been reported in the heterozygous state in multiple individuals with renal amyloidosis (Benson et al. 1993. PubMed ID: 8097946; Hamidi et al. 1998. PubMed ID: 10036586; Haidinger et al. 2013. PubMed ID: 23551149; Meyer et al. 2020. PubMed ID: 32660897). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

#	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: Nov 24, 2024

ClinVar

Relating variation to medicine