NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser) AND Retinal dystrophy

Clinical significance:Uncertain significance (Last evaluated: Feb 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:
RCV001074634.1

Allele description [Variation Report for NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)]

NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)

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.1574G>C (p.Cys525Ser)
HGVS:
  • NC_000016.10:g.1571485C>G
  • NG_032783.1:g.45624G>C
  • NM_014714.4:c.1574G>CMANE SELECT
  • NP_055529.2:p.Cys525Ser
  • NC_000016.9:g.1621486C>G
  • NM_014714.3:c.1574G>C
Protein change:
C525S
Links:
dbSNP: rs112545558
NCBI 1000 Genomes Browser:
rs112545558
Molecular consequence:
  • NM_014714.4:c.1574G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001240226Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Feb 6, 2019)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001240226

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001240226.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 6, 2021

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