NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 18, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001507806.1

Allele description [Variation Report for NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys)]

NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys)

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_000020.2(ACVRL1):c.706G>A (p.Glu236Lys)
HGVS:
  • NC_000012.12:g.51914519G>A
  • NG_009549.1:g.12102G>A
  • NM_000020.2:c.706G>A
  • NM_001077401.2:c.706G>A
  • NP_000011.2:p.Glu236Lys
  • NP_001070869.1:p.Glu236Lys
  • LRG_543t1:c.706G>A
  • LRG_543:g.12102G>A
  • LRG_543p1:p.Glu236Lys
  • NC_000012.11:g.52308303G>A
  • p.Glu236Lys
Protein change:
E236K
Links:
dbSNP: rs1592223490
NCBI 1000 Genomes Browser:
rs1592223490
Molecular consequence:
  • NM_000020.2:c.706G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.706G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001713599Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Likely pathogenic
(Feb 18, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA.

Clin Genet. 2016 Feb;89(2):182-6. doi: 10.1111/cge.12612. Epub 2015 Jun 5.

PubMed [citation]
PMID:
25970827

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 Mayo Clinic Laboratories, Mayo Clinic, SCV001713599.1

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

Description

PS4_moderate, PM2-supporting, PP4, PP3, PS3_supporting, PP1

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

Last Updated: Jun 14, 2021

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