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NM_012193.4(FZD4):c.205C>T (p.His69Tyr) AND Familial exudative vitreoretinopathy

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 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:
RCV000333611.1

Allele description

NM_012193.4(FZD4):c.205C>T (p.His69Tyr)

Gene:
FZD4:frizzled class receptor 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.2
Genomic location:
Preferred name:
NM_012193.4(FZD4):c.205C>T (p.His69Tyr)
HGVS:
  • NC_000011.10:g.86954881G>A
  • NG_011752.1:g.5511C>T
  • NM_012193.4:c.205C>T
  • NP_036325.2:p.His69Tyr
  • NC_000011.9:g.86665923G>A
  • NM_012193.3:c.205C>T
  • Q9ULV1:p.His69Tyr
Protein change:
H69Y
Links:
UniProtKB: Q9ULV1#VAR_063923; dbSNP: rs80358282
NCBI 1000 Genomes Browser:
rs80358282
Molecular consequence:
  • NM_012193.4:c.205C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial exudative vitreoretinopathy
Identifiers:
MeSH: C580083; MedGen: C0339539; OMIM: PS133780

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000374802Illumina Clinical Services Laboratory,Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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, SCV000374802.2

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

Last Updated: Apr 18, 2020