NM_014714.4(IFT140):c.2682_2683insA (p.His895fs) AND Saldino-Mainzer syndrome

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000362187.2

Allele description [Variation Report for NM_014714.4(IFT140):c.2682_2683insA (p.His895fs)]

NM_014714.4(IFT140):c.2682_2683insA (p.His895fs)

Gene:
IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_014714.4(IFT140):c.2682_2683insA (p.His895fs)
HGVS:
  • NC_000016.10:g.1525972_1525973insT
  • NG_032783.1:g.91136_91137insA
  • NM_014714.4:c.2682_2683insAMANE SELECT
  • NP_055529.2:p.His895fs
  • NC_000016.9:g.1575973_1575974insT
  • NM_014714.3:c.2682_2683insA
Protein change:
H895fs
Links:
dbSNP: rs776988446
NCBI 1000 Genomes Browser:
rs776988446
Molecular consequence:
  • NM_014714.4:c.2682_2683insA - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000395133Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000395133.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The IFT140 c.2682_2683insA (p.His895ThrfsTer57) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.00005 in the European (non-Finnish) population from the Exome Aggregation Consortium but this is based on one allele only so it is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Mainzer-Saldino syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Dec 3, 2020

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