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FIBRINOGEN PARIS 1 AND FIBRINOGEN PARIS 1

Germline classification:
other (1 submission)
Last evaluated:
Sep 26, 2014
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:
RCV000017793.3

Allele description [Variation Report for FIBRINOGEN PARIS 1]

FIBRINOGEN PARIS 1

Gene:
FGG:fibrinogen gamma chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
FIBRINOGEN PARIS 1
HGVS:
  • NC_000004.12:g.154606073T>C
  • NG_008834.1:g.11678A>G
  • NM_000509.6:c.1129+632A>G
  • NM_021870.2:c.1129+632A>G
  • NM_021870.3:c.1129+632A>GMANE SELECT
  • LRG_585t1:c.1129+632A>G
  • LRG_585t2:c.1129+632A>G
  • LRG_585:g.11678A>G
  • NC_000004.11:g.155527225T>C
  • NM_000509.5:c.1129+632A>G
  • NM_021870.3:c.1129+632A>G
Links:
OMIM: 134850.0011; dbSNP: rs2066862
NCBI 1000 Genomes Browser:
rs2066862
Molecular consequence:
  • NM_000509.6:c.1129+632A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021870.3:c.1129+632A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
FIBRINOGEN PARIS 1
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038072OMIM
no assertion criteria provided
other
(Sep 26, 2014)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Menache, D. Constitutional and familial abnormal fibrinogen. Thromb. Diath. Haemorrh. 10 (suppl. 13): 173-185, 1964.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Defect in the gamma polypeptide chain of a congenital abnormal fibrinogen (Paris I).

Budzynski AZ, Marder VJ, Ménaché D, Guillin MC.

Nature. 1974 Nov 1;252(5478):66-8. No abstract available.

PubMed [citation]
PMID:
4427684

Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain.

Rosenberg JB, Newman PJ, Mosesson MW, Guillin MC, Amrani DL.

Thromb Haemost. 1993 Mar 1;69(3):217-20.

PubMed [citation]
PMID:
8470043
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000038072.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Menache (1964) described this fibrinogen variant in a father and son. Budzynski et al. (1974) showed that the gamma polypeptide chain in fibrinogen Paris I is abnormally long at the C-terminal end. A terminator mutation, analogous to that found in Hb Constant Spring, was thought to be responsible for it (Marder, 1974); however, Rosenberg et al. (1993) demonstrated an A-to-G transition at nucleotide 6588 within intron 8 of the FGG gene, leading to the insertion of a 45-bp segment between exons 8 and 9 in the mature FGG mRNA, and a 15-amino acid insert in the protein after amino acid 350. Alternative splicing of this region from intron 8 into the mature mRNA also resulted after translation into a substitution of serine for glycine at position 351 (G351S). Rosenberg et al. (1993) concluded that the insertion of this amino acid sequence, with 2 additional cysteines, led to a conformationally altered and dysfunctional gamma chain in Paris I fibrinogen. See also Mosesson et al. (1976).

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

Last Updated: Jul 15, 2024