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NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) AND Retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 20, 2019
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:
RCV001074679.4

Allele description [Variation Report for NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)]

NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)

Genes:
C1QTNF5:C1q and TNF related 5 [Gene - OMIM - HGNC]
MFRP:membrane frizzled-related protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)
Other names:
C1QTNF5, SER163ARG
HGVS:
  • NC_000011.10:g.119339574G>C
  • NG_012235.1:g.12100C>G
  • NM_001278431.2:c.489C>GMANE SELECT
  • NM_015645.5:c.489C>G
  • NM_031433.4:c.*1385C>GMANE SELECT
  • NP_001265360.1:p.Ser163Arg
  • NP_056460.1:p.Ser163Arg
  • NC_000011.9:g.119210284G>C
  • NM_001278431.1:c.489C>G
  • NM_015645.3:c.489C>G
  • NM_015645.4:c.489C>G
  • Q9BXJ0:p.Ser163Arg
Protein change:
S163R; SER163ARG
Links:
UniProtKB: Q9BXJ0#VAR_032629; OMIM: 608752.0001; dbSNP: rs111033578
NCBI 1000 Genomes Browser:
rs111033578
Molecular consequence:
  • NM_031433.4:c.*1385C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001278431.2:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015645.5:c.489C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited 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
SCV001240272Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)
Pathogenic
(Mar 20, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001240272.1

#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 23, 2024