NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter) AND IFT140-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 18, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004731512.1

Allele description [Variation Report for NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter)]

NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter)

Genes:

IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
LOC105371046:uncharacterized LOC105371046 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter)

HGVS:

NC_000016.10:g.1584330G>A
NG_032783.1:g.32779C>T
NM_014714.4:c.1246C>TMANE SELECT
NP_055529.2:p.Gln416Ter
NC_000016.9:g.1634331G>A
NM_014714.3:c.1246C>T

Protein change:

Q416*

Molecular consequence:

NM_014714.4:c.1246C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: IFT140-related disorder
Synonyms:: IFT140-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005336885	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Apr 18, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005336885

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Apr 18, 2024)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV005336885.1

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

Description

The IFT140 c.1246C>T variant is predicted to result in premature protein termination (p.Gln416*). This variant was reported in an individual with the autosomal dominant polycystic kidney-spectrum phenotype (Senum et al. 2022. PubMed ID: 34890546). This variant is reported in 0.020% of alleles in individuals of South Asian descent in gnomAD. Nonsense variants in IFT140 are expected to be pathogenic. This variant is interpreted as pathogenic for both autosomal dominant and autosomal recessive IFT140-related disorders.

#	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

ClinVar

Relating variation to medicine