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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2019
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:
RCV000851581.1

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:
Hypofibrinogenemia
Identifiers:
MedGen: C0553681; Human Phenotype Ontology: HP:0011900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000899295NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 1, 2019) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch
Europeanunknownyes9not providednot provided9not providedresearch
South-Asianunknownyes1not providednot provided1not providedresearch
South-Asian,Europeanunknownyes1not providednot provided1not providedresearch

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

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, et al.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PubMed [citation]
PMID:
31064749
PMCID:
PMC6993014

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
2European1not providednot providedresearch PubMed (2)
3European1not providednot providedresearch PubMed (2)
4European1not providednot providedresearch PubMed (2)
5European1not providednot providedresearch PubMed (2)
6European1not providednot providedresearch PubMed (2)
7European1not providednot providedresearch PubMed (2)
8European1not providednot providedresearch PubMed (2)
9European1not providednot providedresearch PubMed (2)
10European1not providednot providedresearch PubMed (2)
11South-Asian1not providednot providedresearch PubMed (2)
12South-Asian,European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided
2unknownyes1not providednot provided1not providednot providednot provided
3unknownyes1not providednot provided1not providednot providednot provided
4unknownyes1not providednot provided1not providednot providednot provided
5unknownyes1not providednot provided1not providednot providednot provided
6unknownyes1not providednot provided1not providednot providednot provided
7unknownyes1not providednot provided1not providednot providednot provided
8unknownyes1not providednot provided1not providednot providednot provided
9unknownyes1not providednot provided1not providednot providednot provided
10unknownyes1not providednot provided1not providednot providednot provided
11unknownyes1not providednot provided1not providednot providednot provided
12unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024