NM_002890.3(RASA1):c.2011+4A>C 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:
RCV000261406.2

Allele description [Variation Report for NM_002890.3(RASA1):c.2011+4A>C]

NM_002890.3(RASA1):c.2011+4A>C

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.2011+4A>C
HGVS:
  • NC_000005.10:g.87374920A>C
  • NG_011650.1:g.111587A>C
  • NM_001364075.2:c.933+20124T>G
  • NM_002890.3:c.2011+4A>CMANE SELECT
  • NM_022650.3:c.1480+4A>C
  • NC_000005.9:g.86670737A>C
  • NM_002890.2:c.2011+4A>C
Links:
dbSNP: rs886060840
NCBI 1000 Genomes Browser:
rs886060840
Molecular consequence:
  • NM_001364075.2:c.933+20124T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002890.3:c.2011+4A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022650.3:c.1480+4A>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000458978Illumina 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, SCV000458978.2

#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 24, 2021

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