NM_022489.4(INF2):c.641G>A (p.Arg214His) AND Focal segmental glomerulosclerosis 5

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Nov 3, 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:: RCV000001108.3

Allele description [Variation Report for NM_022489.4(INF2):c.641G>A (p.Arg214His)]

NM_022489.4(INF2):c.641G>A (p.Arg214His)

Gene:

INF2:inverted formin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.33

Genomic location:

Preferred name:

NM_022489.4(INF2):c.641G>A (p.Arg214His)

HGVS:

NC_000014.9:g.104703428G>A
NG_027684.1:g.18823G>A
NM_001031714.4:c.641G>A
NM_022489.4:c.641G>AMANE SELECT
NM_032714.3:c.641G>A
NP_001026884.3:p.Arg214His
NP_071934.3:p.Arg214His
NP_116103.1:p.Arg214His
NC_000014.8:g.105169765G>A
NM_022489.3:c.641G>A
NM_022489.4:c.641G>A
Q27J81:p.Arg214His

Protein change:

R214H; ARG214HIS

Links:

UniProtKB: Q27J81#VAR_063080; OMIM: 610982.0004; dbSNP: rs267606879

NCBI 1000 Genomes Browser:

rs267606879

Molecular consequence:

NM_001031714.4:c.641G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022489.4:c.641G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032714.3:c.641G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Focal segmental glomerulosclerosis 5 (FSGS5)
Identifiers:: MONDO: MONDO:0013191; MedGen: C2750475; Orphanet: 656; OMIM: 613237

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021258	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV003935065	Eurofins-Biomnis	criteria provided, single submitter (Accession Criteria ClinVar Biomnis)	Likely pathogenic (Nov 3, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021258

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2010)

germline

literature only

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

SCV003935065

Eurofins-Biomnis

criteria provided, single submitter

(Accession Criteria ClinVar Biomnis)

Likely pathogenic
(Nov 3, 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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR.

Nat Genet. 2010 Jan;42(1):72-6. doi: 10.1038/ng.505. Epub 2009 Dec 20. Erratum in: Nat Genet. 2010 Apr;42(4):361. Tonna, Stephen J [added].

PubMed [citation]

PMID:: 20023659
PMCID:: PMC2980844

Details of each submission

From OMIM, SCV000021258.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of 2 large families segregating autosomal dominant focal segmental glomerulosclerosis (FSGS5; 613237), Brown et al. (2010) identified a heterozygous alteration in exon 4 of the INF2 gene, resulting in an arg214-to-his (R214H) substitution at a conserved residue within the autoinhibitory DID region. Structural modeling revealed that the R214 residue lies close to the DAD-binding region of the DID. The mutation was not found in 282 controls. Age at diagnosis in the 2 families ranged from 12 years to 72 years; 4 of 12 affected individuals developed end-stage renal disease, with age of onset ranging from 17 years to 60 years.

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

From Eurofins-Biomnis, SCV003935065.1

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

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

Last Updated: Sep 29, 2024

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