NM_021870.3(FGG):c.1289dup (p.Ala431fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 15, 2018
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:: RCV001008336.1

Allele description [Variation Report for NM_021870.3(FGG):c.1289dup (p.Ala431fs)]

NM_021870.3(FGG):c.1289dup (p.Ala431fs)

Gene:

FGG:fibrinogen gamma chain [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4q32.1

Genomic location:

Preferred name:

NM_021870.3(FGG):c.1289dup (p.Ala431fs)

HGVS:

NC_000004.12:g.154604912dup
NG_008834.1:g.12844dup
NM_000509.6:c.1289dup
NM_021870.3:c.1289dupMANE SELECT
NP_000500.2:p.Ala431fs
NP_068656.2:p.Ala431fs
LRG_585t1:c.1289dup
LRG_585t2:c.1289dup
LRG_585:g.12844dup
LRG_585p1:p.Ala431fs
LRG_585p2:p.Ala431fs
NC_000004.11:g.155526064dup
NM_000509.4:c.1289dupG

Protein change:

A431fs

Links:

dbSNP: rs1560833290

NCBI 1000 Genomes Browser:

rs1560833290

Molecular consequence:

NM_000509.6:c.1289dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021870.3:c.1289dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001168104	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Sep 15, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168104

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Sep 15, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001168104.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1289dupG variant in the FGG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant replaces the typical last 7 amino acid residues in the FGG protein with 18 different amino acid residues. This alteration may interfere with the proper formation and/or function of the FGG protein. The c.1289dupGvariant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1289dupG as a likely pathogenic variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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