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NM_021870.3(FGG):c.1130G>T (p.Gly377Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 2023
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:
RCV003317941.1

Allele description [Variation Report for NM_021870.3(FGG):c.1130G>T (p.Gly377Val)]

NM_021870.3(FGG):c.1130G>T (p.Gly377Val)

Gene:
FGG:fibrinogen gamma chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_021870.3(FGG):c.1130G>T (p.Gly377Val)
HGVS:
  • NC_000004.12:g.154605066C>A
  • NG_008834.1:g.12685G>T
  • NM_000509.6:c.1130G>T
  • NM_021870.3:c.1130G>TMANE SELECT
  • NP_000500.2:p.Gly377Val
  • NP_068656.2:p.Gly377Val
  • LRG_585t1:c.1130G>T
  • LRG_585t2:c.1130G>T
  • LRG_585:g.12685G>T
  • LRG_585p1:p.Gly377Val
  • LRG_585p2:p.Gly377Val
  • NC_000004.11:g.155526218C>A
  • NM_021870.2:c.1130G>T
Protein change:
G377V
Molecular consequence:
  • NM_000509.6:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021870.3:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004021181Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004021181.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: FGG c.1130G>T (p.Gly377Val) results in a non-conservative amino acid change located in the Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain (IPR002181) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 251240 control chromosomes. To our knowledge, no occurrence of c.1130G>T in individuals affected with Congenital Dysfibrinogenemia and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jul 29, 2023