NM_000118.3(ENG):c.-98G>A AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Likely benign (Last evaluated: Apr 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000507801.2

Allele description [Variation Report for NM_000118.3(ENG):c.-98G>A]

NM_000118.3(ENG):c.-98G>A

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000118.3(ENG):c.-98G>A
HGVS:
  • NC_000009.12:g.127854453C>T
  • NG_009551.1:g.5316G>A
  • NM_000118.3:c.-98G>A
  • NM_001114753.2:c.-98G>A
  • LRG_589t1:c.-98G>A
  • LRG_589t2:c.-98G>A
  • LRG_589:g.5316G>A
  • NC_000009.11:g.130616732C>T
Links:
dbSNP: rs923040659
NCBI 1000 Genomes Browser:
rs923040659
Molecular consequence:
  • NM_000118.3:c.-98G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001114753.2:c.-98G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000603451ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Apr 17, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000603451.2

#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: Apr 12, 2021

Support Center