NM_014714.4(IFT140):c.2767_2768+2del AND Saldino-Mainzer syndrome

Clinical significance:Likely pathogenic (Last evaluated: Dec 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001069954.2

Allele description [Variation Report for NM_014714.4(IFT140):c.2767_2768+2del]

NM_014714.4(IFT140):c.2767_2768+2del

Gene:
IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_014714.4(IFT140):c.2767_2768+2del
HGVS:
  • NC_000016.10:g.1525885_1525888del
  • NC_000016.10:g.1525888_1525891del
  • NG_032783.1:g.91221_91224del
  • NM_014714.4:c.2767_2768+2delMANE SELECT
  • NC_000016.9:g.1575886_1575889del
  • NC_000016.9:g.1575889_1575892del
  • NM_014714.3:c.2767_2768+2del
Links:
Molecular consequence:
  • NM_014714.4:c.2767_2768+2del - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001235154Invitaecriteria provided, single submitter
Likely pathogenic
(Dec 6, 2019)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, et al.

Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.

PubMed [citation]
PMID:
22503633
PMCID:
PMC3376548

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, et al.

Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294.

PubMed [citation]
PMID:
23418020
PMCID:
PMC4226634
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001235154.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant results in the deletion of part of exon 21 (c.2767_2768+2del) of the IFT140 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with IFT140-related conditions. Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 10, 2021

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