NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) AND Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2018
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:: RCV000626465.2

Allele description [Variation Report for NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)]

NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)

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.634G>A (p.Gly212Arg)

HGVS:

NC_000016.10:g.1592176C>T
NG_032783.1:g.24933G>A
NM_014714.4:c.634G>AMANE SELECT
NP_055529.2:p.Gly212Arg
NC_000016.9:g.1642177C>T
NM_014714.3:c.634G>A

Protein change:

G212R; GLY212ARG

Links:

OMIM: 614620.0005; dbSNP: rs201188361

NCBI 1000 Genomes Browser:

rs201188361

Molecular consequence:

NM_014714.4:c.634G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Identifiers:: MedGen: C5679609

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nlp-15 Neuropeptide-Like Protein [Caenorhabditis elegans]
nlp-15 Neuropeptide-Like Protein [Caenorhabditis elegans]
Gene ID:173174

Gene
F07G11.2 Methyltransferase FkbM domain-containing protein [Caenorhabditis elegan...
F07G11.2 Methyltransferase FkbM domain-containing protein [Caenorhabditis elegans]
Gene ID:184157

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000746992	Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University	criteria provided, single submitter (Geoffroy et al. (Hum Mutat. 2018))	Pathogenic (Jan 1, 2018)	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000746992

Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

criteria provided, single submitter

(Geoffroy et al. (Hum Mutat. 2018))

Pathogenic
(Jan 1, 2018)

inherited

research

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	inherited	yes	1	1	not provided	not provided	yes	research

Citations

PubMed

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, et al.

Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8.

PubMed [citation]

PMID:: 29688594

Details of each submission

From Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University, SCV000746992.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	research	PubMed (1)

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

Last Updated: Oct 20, 2024

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