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NM_014714.4(IFT140):c.1167del (p.Lys390fs) AND Saldino-Mainzer syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490349.1

Allele description [Variation Report for NM_014714.4(IFT140):c.1167del (p.Lys390fs)]

NM_014714.4(IFT140):c.1167del (p.Lys390fs)

Genes:
IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
LOC105371046:uncharacterized LOC105371046 [Gene]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_014714.4(IFT140):c.1167del (p.Lys390fs)
HGVS:
  • NC_000016.10:g.1584410del
  • NG_032783.1:g.32700del
  • NM_014714.4:c.1167delMANE SELECT
  • NP_055529.2:p.Lys390fs
  • NC_000016.9:g.1634411del
  • NM_014714.3:c.1167delG
Protein change:
K390fs
Links:
dbSNP: rs1085307074
NCBI 1000 Genomes Browser:
rs1085307074
Molecular consequence:
  • NM_014714.4:c.1167del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Saldino-Mainzer syndrome (SRTD9)
Synonyms:
CONORENAL SYNDROME; Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267361Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 18, 2016) 		germlinereference population

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267361.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 7, 2025