NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 18, 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:: RCV002455952.2

Allele description [Variation Report for NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)]

NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)

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.3535A>G (p.Thr1179Ala)

HGVS:

NC_000014.9:g.104714697A>G
NG_027684.1:g.30092A>G
NM_001031714.4:c.3535A>G
NM_022489.4:c.3535A>GMANE SELECT
NP_001026884.3:p.Thr1179Ala
NP_071934.3:p.Thr1179Ala
NC_000014.8:g.105181034A>G
NM_022489.3:c.3535A>G

Protein change:

T1179A

Links:

dbSNP: rs778879482

NCBI 1000 Genomes Browser:

rs778879482

Molecular consequence:

NM_001031714.4:c.3535A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022489.4:c.3535A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002616165	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 18, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002616165

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 18, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002616165.2

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

Description

The p.T1179A variant (also known as c.3535A>G), located in coding exon 20 of the INF2 gene, results from an A to G substitution at nucleotide position 3535. The threonine at codon 1179 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 1, 2024

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