NM_002890.3(RASA1):c.*572C>A AND Parkes Weber syndrome

Clinical significance:Uncertain significance (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:
RCV000364112.2

Allele description [Variation Report for NM_002890.3(RASA1):c.*572C>A]

NM_002890.3(RASA1):c.*572C>A

Genes:
RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
CCNH:cyclin H [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_002890.3(RASA1):c.*572C>A
HGVS:
  • NC_000005.10:g.87391455C>A
  • NG_011650.1:g.128122C>A
  • NM_001363539.2:c.*1405G>T
  • NM_001364075.2:c.933+3589G>T
  • NM_001364076.2:c.*1405G>T
  • NM_002890.3:c.*572C>AMANE SELECT
  • NM_022650.3:c.*572C>A
  • NC_000005.9:g.86687272C>A
  • NM_002890.2:c.*572C>A
  • NR_157071.2:n.2355G>T
Links:
dbSNP: rs886060848
NCBI 1000 Genomes Browser:
rs886060848
Molecular consequence:
  • NM_001363539.2:c.*1405G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001364076.2:c.*1405G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_002890.3:c.*572C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_022650.3:c.*572C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001364075.2:c.933+3589G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_157071.2:n.2355G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Parkes Weber syndrome (PKWS)
Synonyms:
Cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb
Identifiers:
MONDO: MONDO:0012017; MedGen: CN074207; Orphanet: 2346

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000459017Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(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, SCV000459017.2

#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: Dec 4, 2021

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