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NM_031433.4(MFRP):c.*235G>A AND Retinal degeneration

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:
RCV000321456.14

Allele description [Variation Report for NM_031433.4(MFRP):c.*235G>A]

NM_031433.4(MFRP):c.*235G>A

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_031433.4(MFRP):c.*235G>A
HGVS:
  • NC_000011.10:g.119341313C>T
  • NG_012235.1:g.10361G>A
  • NM_015645.5:c.-662G>A
  • NM_031433.4:c.*235G>AMANE SELECT
  • NC_000011.9:g.119212023C>T
  • NM_015645.4:c.-662G>A
  • NM_031433.3:c.*235G>A
Links:
dbSNP: rs377666251
NCBI 1000 Genomes Browser:
rs377666251
Molecular consequence:
  • NM_031433.4:c.*235G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_015645.5:c.-662G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Retinal degeneration
Identifiers:
MONDO: MONDO:0004580; MeSH: D012162; MedGen: C0035304; Human Phenotype Ontology: HP:0000546

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000367955Illumina Laboratory Services, 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 Laboratory Services, Illumina, SCV000367955.2

#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: Nov 10, 2024