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FIBRINOGEN PARIS 1 AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2024
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:
RCV003317040.2

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004021182Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Jan 23, 2024)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004021182.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: FGG c.1129+632A>G is located at a position not widely known to affect splicing. Two computational tools predict a significant impact on normal splicing, predicting that it creates a cryptic 3' splice acceptor site. Two predict the variant has no significant impact on splicing. At least one publication reports experimental evidence that this variant affects mRNA splicing, resulting in a 45 base pair and 15 amino acid insertion between exons 8 and 9 (Rosenberg_1993).The variant allele was found at a frequency of 0.0053 in 152250 control chromosomes, predominantly at a frequency of 0.0092 within the Non-Finnish European subpopulation in the gnomAD database v4. c.1129+632A>G has been reported in the literature in an individual affected with Congenital Dysfibrinogenemia (Rosenberg_1993). These data do not allow any conclusion about variant significance. The following publication has been ascertained in the context of this evaluation (PMID: 8470043). The following publication have been ascertained in the context of this evaluation (PMID: 8470043). ClinVar contains an entry for this variant (Variation ID: 16371). Based on the evidence outlined above, the variant was classified as VUS.

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

Last Updated: Jul 15, 2024