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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 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:
RCV002476987.1

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:
Familial visceral amyloidosis, Ostertag type (AMYLD2)
Synonyms:
Ostertag type amyloidosis; German type amyloidosis; Amyloidosis familial renal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007099; MedGen: C0268389; Orphanet: 85450; OMIM: 105200
Name:
Congenital afibrinogenemia
Identifiers:
MONDO: MONDO:0008737; MedGen: C2584774; Orphanet: 335; OMIM: 202400
Name:
Familial dysfibrinogenemia
Synonyms:
Dysfibrinogenemia, congenital
Identifiers:
MONDO: MONDO:0014452; MedGen: C0272350; Orphanet: 335; Orphanet: 98881; OMIM: 616004

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002804033Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 20, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002804033.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024