NM_005359.6(SMAD4):c.*5546CA[14] 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:
RCV000264233.2

Allele description [Variation Report for NM_005359.6(SMAD4):c.*5546CA[14]]

NM_005359.6(SMAD4):c.*5546CA[14]

Gene:
SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_005359.6(SMAD4):c.*5546CA[14]
HGVS:
  • NC_000018.10:g.51084013CA[14]
  • NG_013013.2:g.120974CA[14]
  • NM_005359.6:c.*5546CA[14]MANE SELECT
  • LRG_318:g.120974CA[14]
  • NC_000018.9:g.48610383CA[14]
  • NM_005359.5:c.*5574_*5577delCACA
Links:
dbSNP: rs56017493
NCBI 1000 Genomes Browser:
rs56017493
Molecular consequence:
  • NM_005359.6:c.*5546CA[14] - 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
SCV000409369Illumina 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, SCV000409369.2

#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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