NM_022489.4(INF2):c.2053A>G (p.Ile685Val) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 19, 2024
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:: RCV000527454.18

Allele description [Variation Report for NM_022489.4(INF2):c.2053A>G (p.Ile685Val)]

NM_022489.4(INF2):c.2053A>G (p.Ile685Val)

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.2053A>G (p.Ile685Val)

HGVS:

NC_000014.9:g.104709620A>G
NG_027684.1:g.25015A>G
NM_001031714.4:c.2053A>G
NM_022489.4:c.2053A>GMANE SELECT
NP_001026884.3:p.Ile685Val
NP_071934.3:p.Ile685Val
NC_000014.8:g.105175957A>G
NM_022489.3:c.2053A>G
p.Ile685Val

Protein change:

I685V

Links:

dbSNP: rs199526439

NCBI 1000 Genomes Browser:

rs199526439

Molecular consequence:

NM_001031714.4:c.2053A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022489.4:c.2053A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Name:: Charcot-Marie-Tooth disease dominant intermediate E
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS
Identifiers:: MONDO: MONDO:0013758; MedGen: C4302667; Orphanet: 93114; OMIM: 614455

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000652085	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 19, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23349334, 23515051, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000652085

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 19, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

McCarthy HJ, Bierzynska A, Wherlock M, Ognjanovic M, Kerecuk L, Hegde S, Feather S, Gilbert RD, Krischock L, Jones C, Sinha MD, Webb NJ, Christian M, Williams MM, Marks S, Koziell A, Welsh GI, Saleem MA; RADAR the UK SRNS Study Group..

Clin J Am Soc Nephrol. 2013 Apr;8(4):637-48. doi: 10.2215/CJN.07200712. Epub 2013 Jan 24.

PubMed [citation]

PMID:: 23349334
PMCID:: PMC3613958

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, et al.

Kidney Int. 2013 Jul;84(1):206-13. doi: 10.1038/ki.2013.93. Epub 2013 Mar 20.

PubMed [citation]

PMID:: 23515051

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000652085.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 685 of the INF2 protein (p.Ile685Val). This variant is present in population databases (rs199526439, gnomAD 0.03%). This missense change has been observed in individual(s) with steroid-resistant nephrotic syndrome (PMID: 23349334, 23515051). ClinVar contains an entry for this variant (Variation ID: 312700). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024

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