NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala) AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:Uncertain significance (Last evaluated: May 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001334154.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)]

NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)

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.1247G>C (p.Gly416Ala)
HGVS:
  • NC_000012.12:g.51918985G>C
  • NG_009549.1:g.16568G>C
  • NM_000020.3:c.1247G>CMANE SELECT
  • NM_001077401.2:c.1247G>C
  • NP_000011.2:p.Gly416Ala
  • NP_001070869.1:p.Gly416Ala
  • LRG_543t1:c.1247G>C
  • LRG_543:g.16568G>C
  • NC_000012.11:g.52312769G>C
  • NM_000020.2:c.1247G>C
Protein change:
G416A
Molecular consequence:
  • NM_000020.3:c.1247G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.1247G>C - 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
SCV001526921Baylor Geneticscriteria provided, single submitter
Uncertain significance
(May 8, 2018)
maternalclinical testing

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

Summary from all submissions

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

Citations

PubMed

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 Baylor Genetics, SCV001526921.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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