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NM_001141945.3(ACTA2):c.-24+157C>T AND Moyamoya disease

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:
RCV000352424.14

Allele description [Variation Report for NM_001141945.3(ACTA2):c.-24+157C>T]

NM_001141945.3(ACTA2):c.-24+157C>T

Genes:
FAS:Fas cell surface death receptor [Gene - OMIM - HGNC]
ACTA2:actin alpha 2, smooth muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_001141945.3(ACTA2):c.-24+157C>T
HGVS:
  • NC_000010.11:g.88990782G>A
  • NG_009089.2:g.5252G>A
  • NG_011541.1:g.5609C>T
  • NG_120201.1:g.420G>A
  • NM_000043.4:c.-95G>A
  • NM_000043.5:c.-95G>A
  • NM_001141945.3:c.-24+157C>T
  • NM_001320619.1:c.-95G>A
  • NM_001320855.2:c.-24+240C>T
  • NM_001406462.1:c.-182+240C>T
  • NM_001406463.1:c.-182+157C>T
  • NM_001406467.1:c.-24+240C>T
  • NM_001406468.1:c.-24+157C>T
  • NM_001406471.1:c.-24+157C>T
  • NM_152871.3:c.-95G>A
  • NM_152872.3:c.-95G>A
  • LRG_134t1:c.-95G>A
  • LRG_781t2:c.-24+157C>T
  • LRG_134:g.5252G>A
  • LRG_781:g.5609C>T
  • NC_000010.10:g.90750539G>A
  • NM_001141945.1:c.-24+157C>T
  • NR_028033.3:n.224G>A
  • NR_028034.3:n.224G>A
  • NR_028035.3:n.224G>A
  • NR_028036.3:n.224G>A
  • NR_135313.1:n.224G>A
Links:
dbSNP: rs2274355
NCBI 1000 Genomes Browser:
rs2274355
Molecular consequence:
  • NM_001141945.3:c.-24+157C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320855.2:c.-24+240C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406462.1:c.-182+240C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406463.1:c.-182+157C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406467.1:c.-24+240C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406468.1:c.-24+157C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406471.1:c.-24+157C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Moyamoya disease
Synonyms:
Moyamoya syndrome
Identifiers:
MONDO: MONDO:0016820; MedGen: C0026654; OMIM: PS252350

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000365880Illumina 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

Help

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, SCV000365880.2

#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 24, 2024