U.S. flag

An official website of the United States government

NM_021871.4(FGA):c.104G>A (p.Arg35His) AND FGA-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2024
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:
RCV004532379.2

Allele description [Variation Report for NM_021871.4(FGA):c.104G>A (p.Arg35His)]

NM_021871.4(FGA):c.104G>A (p.Arg35His)

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.104G>A (p.Arg35His)
Other names:
R16H; FIBRINOGEN AMIENS 1; FIBRINOGEN AMIENS 2; FIBRINOGEN BERGAMO 3; FIBRINOGEN BERN 2; FIBRINOGEN BICETRE 1; FIBRINOGEN BIRMINGHAM 1; FIBRINOGEN CHAPEL HILL 2; FIBRINOGEN CLERMONT-FERRAND 1; FIBRINOGEN GIESSEN 1; FIBRINOGEN LEITCHFIELD; FIBRINOGEN LONG BEACH 1; FIBRINOGEN LOUISVILLE 1; FIBRINOGEN MANCHESTER 1; FIBRINOGEN PARIS 6; FIBRINOGEN PETOSKEY 1; FIBRINOGEN SEATTLE 2; FIBRINOGEN SHEFFIELD 2; FIBRINOGEN SYDNEY 1; FIBRINOGEN SYDNEY 2; FIBRINOGEN WHITE MARSH 1; Fibrinogen Petoskey
HGVS:
  • NC_000004.12:g.154589513C>T
  • NG_008832.1:g.6233G>A
  • NM_000508.5:c.104G>A
  • NM_021871.4:c.104G>AMANE SELECT
  • NP_000499.1:p.Arg35His
  • NP_068657.1:p.Arg35His
  • LRG_557t1:c.104G>A
  • LRG_557t2:c.104G>A
  • LRG_557:g.6233G>A
  • LRG_557p1:p.Arg35His
  • NC_000004.11:g.155510665C>T
  • NM_000508.3:c.104G>A
  • NM_000508.4:c.104G>A
  • NM_021871.2:c.104G>A
  • NM_021871.3:c.104G>A
  • NM_021871.4:c.104G>A
  • P02671:p.Arg35His
Protein change:
R35H; ARG16HIS
Links:
UniProtKB: P02671#VAR_002393; OMIM: 134820.0004; dbSNP: rs121909607
NCBI 1000 Genomes Browser:
rs121909607
Molecular consequence:
  • NM_000508.5:c.104G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021871.4:c.104G>A - 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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004117662PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(May 28, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004117662.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The FGA c.104G>A variant is predicted to result in the amino acid substitution p.Arg35His. This variant, also referred to as p.Arg16His using legacy nomenclature, has been reported in many patients to be causative for autosomal dominant congenital dysfibrinogenemia (Casini et al. 2015. PubMed ID: 25320241; Siebenlist et al. 1988. PubMed ID: 3345340; Smith et al. 2018. PubMed ID: 30349899; Shapiro et al. 2013. PubMed ID: 23061815). Other missense variants affecting this amino acid (p.Arg35Cys, p.Arg35Ser, p.Arg35Pro) have also been reported in patients with dysfibrinogenemia, suggesting p.Arg35 is important for proper FGA protein function (Miesbach et al. 2010. PubMed ID: 19923982; Shapiro et al. 2013. PubMed ID: 23061815). This variant is reported in 0.0031% of alleles in individuals of European (non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024