NM_022489.4(INF2):c.2693G>T (p.Cys898Phe) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 31, 2019
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:: RCV001224567.6

Allele description [Variation Report for NM_022489.4(INF2):c.2693G>T (p.Cys898Phe)]

NM_022489.4(INF2):c.2693G>T (p.Cys898Phe)

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.2693G>T (p.Cys898Phe)

HGVS:

NC_000014.9:g.104712910G>T
NG_027684.1:g.28305G>T
NM_001031714.4:c.2693G>T
NM_022489.4:c.2693G>TMANE SELECT
NP_001026884.3:p.Cys898Phe
NP_071934.3:p.Cys898Phe
NC_000014.8:g.105179247G>T
NM_022489.3:c.2693G>T

Protein change:

C898F

Links:

dbSNP: rs1890119995

NCBI 1000 Genomes Browser:

rs1890119995

Molecular consequence:

NM_001031714.4:c.2693G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_022489.4:c.2693G>T - 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
SCV001396772	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 31, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001396772

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 31, 2019)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001396772.5

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

Description

This sequence change replaces cysteine with phenylalanine at codon 898 of the INF2 protein (p.Cys898Phe). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with INF2-related conditions. 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: Mar 5, 2024

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