NM_014714.4(IFT140):c.3141+1G>T AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000626463.1

Allele description [Variation Report for NM_014714.4(IFT140):c.3141+1G>T]

NM_014714.4(IFT140):c.3141+1G>T

Gene:
IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_014714.4(IFT140):c.3141+1G>T
HGVS:
  • NC_000016.10:g.1524551C>A
  • NG_032783.1:g.92558G>T
  • NM_014714.4:c.3141+1G>TMANE SELECT
  • NC_000016.9:g.1574552C>A
  • NM_014714.3:c.3141+1G>T
Links:
dbSNP: rs764770536
NCBI 1000 Genomes Browser:
rs764770536
Molecular consequence:
  • NM_014714.4:c.3141+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Saldino-Mainzer syndrome (SRTD9)
Synonyms:
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; Conorenal syndrome; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009964; MedGen: C1849437; Orphanet: 140969; OMIM: 266920
Name:
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Identifiers:
MONDO: MONDO:0018342; MedGen: C4518774

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746990Laboratory of Medical Genetics, INSERMcriteria provided, single submitter
Pathogenic
(Jan 1, 2018)
inheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providedyesresearch

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, INSERM, SCV000746990.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 7, 2021

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