NM_005359.6(SMAD4):c.*5535_*5540del AND Hereditary hemorrhagic telangiectasia type 1

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:
RCV000398441.2

Allele description [Variation Report for NM_005359.6(SMAD4):c.*5535_*5540del]

NM_005359.6(SMAD4):c.*5535_*5540del

Gene:
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005359.6(SMAD4):c.*5535_*5540del
HGVS:
  • NC_000018.10:g.51084002_51084007del
  • NG_013013.2:g.120963_120968del
  • NM_005359.6:c.*5535_*5540delMANE SELECT
  • LRG_318:g.120963_120968del
  • NC_000018.9:g.48610372_48610377del
  • NM_005359.5:c.*5535_*5540delACGCGC
Links:
dbSNP: rs147193925
NCBI 1000 Genomes Browser:
rs147193925
Molecular consequence:
  • NM_005359.6:c.*5535_*5540del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Hereditary hemorrhagic telangiectasia type 1 (HHT1)
Synonyms:
Osler Weber Rendu syndrome type 1
Identifiers:
MONDO: MONDO:0008535; MedGen: C4551861; Orphanet: 774; OMIM: 187300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000409320Illumina 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, SCV000409320.2

#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 27, 2021

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