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FIBRINOGEN PARIS 1 AND Congenital afibrinogenemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 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:
RCV002247352.1

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:
Congenital afibrinogenemia
Identifiers:
MONDO: MONDO:0008737; MedGen: C2584774; Orphanet: 335; OMIM: 202400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002516368Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)
Pathogenic
(May 4, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV002516368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024