NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu) AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:Likely benign (Last evaluated: May 26, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000865909.3

Allele description [Variation Report for NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu)]

NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu)
HGVS:
  • NC_000012.12:g.51913114C>T
  • NG_009549.1:g.10697C>T
  • NM_000020.3:c.77C>TMANE SELECT
  • NM_001077401.2:c.77C>T
  • NP_000011.2:p.Pro26Leu
  • NP_001070869.1:p.Pro26Leu
  • LRG_543t1:c.77C>T
  • LRG_543:g.10697C>T
  • NC_000012.11:g.52306898C>T
  • NM_000020.2:c.77C>T
Protein change:
P26L
Links:
dbSNP: rs199542304
NCBI 1000 Genomes Browser:
rs199542304
Molecular consequence:
  • NM_000020.3:c.77C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.77C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)
Synonyms:
Telangiectasia, hereditary hemorrhagic, type II; Osler Weber Rendu syndrome type 2
Identifiers:
MONDO: MONDO:0010880; MedGen: C1838163; Orphanet: 774; OMIM: 600376

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001006936Invitaecriteria provided, single submitter
Likely benign
(May 26, 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, SCV001006936.3

#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: Oct 7, 2021

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