NM_000020.3(ACVRL1):c.182G>A (p.Arg61Lys) AND Hereditary hemorrhagic telangiectasia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 23, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003458985.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.182G>A (p.Arg61Lys)]

NM_000020.3(ACVRL1):c.182G>A (p.Arg61Lys)

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.182G>A (p.Arg61Lys)

HGVS:

NC_000012.12:g.51913219G>A
NG_009549.1:g.10802G>A
NM_000020.3:c.182G>AMANE SELECT
NM_001077401.2:c.182G>A
NM_001406487.1:c.182G>A
NM_001406488.1:c.182G>A
NM_001406489.1:c.182G>A
NM_001406490.1:c.182G>A
NM_001406491.1:c.182G>A
NM_001406492.1:c.182G>A
NM_001406493.1:c.182G>A
NM_001406494.1:c.182G>A
NM_001406495.1:c.61+684G>A
NP_000011.2:p.Arg61Lys
NP_000011.2:p.Arg61Lys
NP_001070869.1:p.Arg61Lys
NP_001393416.1:p.Arg61Lys
NP_001393417.1:p.Arg61Lys
NP_001393418.1:p.Arg61Lys
NP_001393419.1:p.Arg61Lys
NP_001393420.1:p.Arg61Lys
NP_001393421.1:p.Arg61Lys
NP_001393422.1:p.Arg61Lys
NP_001393423.1:p.Arg61Lys
LRG_543t1:c.182G>A
LRG_543:g.10802G>A
LRG_543p1:p.Arg61Lys
NC_000012.11:g.52307003G>A
NM_000020.2:c.182G>A

Protein change:

R61K

Molecular consequence:

NM_001406495.1:c.61+684G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000020.3:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001077401.2:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406487.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406488.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406489.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406490.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406491.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406492.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406493.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406494.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004177055	Clinical Genomics Laboratory, Washington University in St. Louis	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 23, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004177055

Clinical Genomics Laboratory, Washington University in St. Louis

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 23, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Clinical Genomics Laboratory, Washington University in St. Louis, SCV004177055.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The ACVRL1 c.182G>A (p.Arg61Lys) variant was identified at a near heterozygous allelic fraction. This variant, to our knowledge, has not been reported in the medical literature. This variant is absent from the general population (gnomAD v.3.1.2), indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on the ACVRL1 function. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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