NM_000118.3(ENG):c.1533G>A (p.Ala511=) AND Hereditary hemorrhagic telangiectasia

Clinical significance:Benign (Last evaluated: Nov 28, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000226501.7

Allele description [Variation Report for NM_000118.3(ENG):c.1533G>A (p.Ala511=)]

NM_000118.3(ENG):c.1533G>A (p.Ala511=)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000118.3(ENG):c.1533G>A (p.Ala511=)
HGVS:
  • NC_000009.12:g.127818273C>T
  • NG_009551.1:g.41496G>A
  • NM_000118.3:c.1533G>A
  • NM_001114753.2:c.1533G>A
  • NM_001278138.1:c.987G>A
  • NP_000109.1:p.Ala511=
  • NP_001108225.1:p.Ala511=
  • NP_001265067.1:p.Ala329=
  • LRG_589t1:c.1533G>A
  • LRG_589t2:c.1533G>A
  • LRG_589:g.41496G>A
  • LRG_589p1:p.Ala511=
  • LRG_589p2:p.Ala511=
  • NC_000009.11:g.130580552C>T
Links:
dbSNP: rs140760635
NCBI 1000 Genomes Browser:
rs140760635
Molecular consequence:
  • NM_000118.3:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114753.2:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278138.1:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary hemorrhagic telangiectasia (HHT)
Synonyms:
Osler Weber Rendu syndrome; ORW disease; Osler-Rendu-Weber disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000283527Invitaecriteria provided, single submitter
Benign
(Nov 28, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000283527.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2021

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