NM_033629.6(TREX1):c.531= (p.Tyr177=) AND Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000341237.2

Allele description [Variation Report for NM_033629.6(TREX1):c.531= (p.Tyr177=)]

NM_033629.6(TREX1):c.531= (p.Tyr177=)

Genes:
ATRIP:ATR interacting protein [Gene - OMIM - HGNC]
ATRIP-TREX1:ATRIP-TREX1 readthrough [Gene]
TREX1:three prime repair exonuclease 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_033629.6(TREX1):c.531= (p.Tyr177=)
HGVS:
  • NC_000003.12:g.48467186=
  • NG_009820.2:g.6357=
  • NG_033100.1:g.38675G>A
  • NG_041782.1:g.25477=
  • NM_001271023.2:c.*1632=
  • NM_007248.5:c.501=
  • NM_032166.4:c.*1632=
  • NM_033629.6:c.531=MANE SELECT
  • NM_130384.3:c.*1632=MANE SELECT
  • NP_009179.2:p.Tyr167=
  • NP_338599.1:p.Tyr177=
  • LRG_282t1:c.531=
  • LRG_282:g.6357=
  • LRG_282p1:p.Tyr177=
  • NC_000003.11:g.48508585C>T
  • NM_033629.2:c.531C>T
  • NM_033629.3:c.531C>T
  • NP_338599.1:p.(=)
  • NR_153405.1:n.3840=
  • p.Tyr177Tyr
Links:
dbSNP: rs11797
NCBI 1000 Genomes Browser:
rs11797
Molecular consequence:
  • NM_001271023.2:c.*1632= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_007248.5:c.501= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_032166.4:c.*1632= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_033629.6:c.531= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_130384.3:c.*1632= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NR_153405.1:n.3840= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NR_153405.1:n.3840= - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS)
Synonyms:
Vasculopathy, retinal, with cerebral leukodystrophy; Cerebroretinal vasculopathy, hereditary; Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
Identifiers:
MONDO: MONDO:0008641; MedGen: C1860518; Orphanet: 3421; Orphanet: 63261; Orphanet: 71291; OMIM: 192315

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000445031Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

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, SCV000445031.2

#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: Oct 6, 2021

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