NM_002010.3(FGF9):c.566C>G (p.Pro189Arg) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 5, 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:: RCV002225982.2

Allele description [Variation Report for NM_002010.3(FGF9):c.566C>G (p.Pro189Arg)]

NM_002010.3(FGF9):c.566C>G (p.Pro189Arg)

Gene:

FGF9:fibroblast growth factor 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_002010.3(FGF9):c.566C>G (p.Pro189Arg)

HGVS:

NC_000013.11:g.21701374C>G
NG_016272.1:g.35299C>G
NM_002010.3:c.566C>GMANE SELECT
NP_002001.1:p.Pro189Arg
NC_000013.10:g.22275513C>G
NM_002010.2:c.566C>G

Protein change:

P189R

Links:

dbSNP: rs2138150227

NCBI 1000 Genomes Browser:

rs2138150227

Molecular consequence:

NM_002010.3:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus phospholipase A2, group VI (Pla2g6), transcript variant 3, mRNA
Mus musculus phospholipase A2, group VI (Pla2g6), transcript variant 3, mRNA
gi|2438095360|ref|NM_001199024.2|

Nucleotide
caspase recruitment domain-containing protein 8 isoform a [Homo sapiens]
caspase recruitment domain-containing protein 8 isoform a [Homo sapiens]
gi|296531357|ref|NP_001171829.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002503928	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jan 5, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002503928

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jan 5, 2022)

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, SCV002503928.2

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

Description

Published functional studies suggest a damaging effect: P198R disrupts FGF9 homodimerization (Thuresson et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33174625, 27535533)

#	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: Dec 24, 2023

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