NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) AND IFT80-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 12, 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:: RCV003942476.2

Allele description [Variation Report for NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)]

NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)

Genes:

TRIM59-IFT80:TRIM59-IFT80 readthrough (NMD candidate) [Gene - HGNC]
IFT80:intraflagellar transport 80 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.33

Genomic location:

Preferred name:

NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)

HGVS:

NC_000003.12:g.160303973T>C
NG_022932.1:g.100560A>G
NM_001190241.2:c.682A>G
NM_001190242.2:c.682A>G
NM_020800.3:c.1093A>GMANE SELECT
NP_001177170.1:p.Thr228Ala
NP_001177171.1:p.Thr228Ala
NP_065851.1:p.Thr365Ala
NC_000003.11:g.160021761T>C
NM_020800.2:c.1093A>G
NR_148401.1:n.1801A>G
NR_148402.1:n.3337A>G
NR_148403.1:n.3604A>G

Protein change:

T228A

Links:

dbSNP: rs140202230

NCBI 1000 Genomes Browser:

rs140202230

Molecular consequence:

NM_001190241.2:c.682A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001190242.2:c.682A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020800.3:c.1093A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148401.1:n.1801A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148402.1:n.3337A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148403.1:n.3604A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: IFT80-related disorder
Synonyms:: IFT80-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004760732	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely pathogenic (Jul 12, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004760732

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely pathogenic
(Jul 12, 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, SCV004760732.2

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

Description

The IFT80 c.1093A>G variant is predicted to result in the amino acid substitution p.Thr365Ala. This variant along with a second variant in the IFT80 gene has been reported in two patients with asphyxiating thoracic dystrophy and perinatal lethal short-rib polydactyly syndromes, respectively (Table S2, Zhang et al. 2018. PubMed ID: 29068549). This variant is reported in 0.092% of alleles in individuals of African descent in gnomAD. This variant is interpreted as likely pathogenic.

#	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 13, 2024

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