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NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Oct 19, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001263071.4

Allele description [Variation Report for NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)]

NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
Deletion
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
HGVS:
  • NC_000009.12:g.127818333_127818336del
  • NG_009551.1:g.41435_41438del
  • NM_000118.4:c.1470_1473delAGAC
  • NM_001114753.3:c.1472_1475delMANE SELECT
  • NM_001278138.2:c.926_929del
  • NP_000109.1:p.Asp491Alafs
  • NP_000109.1:p.Asp491fs
  • NP_001108225.1:p.Asp491Alafs
  • NP_001108225.1:p.Asp491fs
  • NP_001265067.1:p.Asp309fs
  • LRG_589t1:c.1472_1475del
  • LRG_589t2:c.1470_1473del
  • LRG_589:g.41435_41438del
  • LRG_589p1:p.Asp491fs
  • LRG_589p2:p.Asp491Alafs
  • NC_000009.11:g.130580610_130580613del
  • NC_000009.11:g.130580612_130580615del
  • NM_000118.3:c.1472_1475del
  • NM_000118.3:c.1472_1475delACAG
  • NM_001114753.1:c.1472_1475delACAG
  • NM_001114753.2:c.1470_1473delAGAC
  • NM_001114753.2:c.1472_1475del
  • NR_136302.1:n.1400_1403del
Protein change:
D309fs
Links:
dbSNP: rs1830384910
NCBI 1000 Genomes Browser:
rs1830384910
Molecular consequence:
  • NM_000118.4:c.1470_1473delAGAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114753.3:c.1472_1475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278138.2:c.926_929del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_136302.1:n.1400_1403del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Telangiectasia, hereditary hemorrhagic, 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
SCV001441148NIHR Bioresource Rare Diseases, University of Cambridge
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 1, 2018)
unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

SCV002802315Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Oct 19, 2021)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownyes1not providednot providednot providednot providedresearch

Citations

PubMed

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E.

Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.

PubMed [citation]
PMID:
32573726
PMCID:
PMC7717479

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001441148.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)

Description

PVS1+PM2+PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

From Fulgent Genetics, Fulgent Genetics, SCV002802315.1

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

Last Updated: May 1, 2024