NM_000020.3(ACVRL1):c.193del (p.Glu65fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 29, 2021
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:: RCV002407052.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.193del (p.Glu65fs)]

NM_000020.3(ACVRL1):c.193del (p.Glu65fs)

Gene:

ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_000020.3(ACVRL1):c.193del (p.Glu65fs)

HGVS:

NC_000012.12:g.51913230del
NG_009549.1:g.10813del
NM_000020.3:c.193delMANE SELECT
NM_001077401.2:c.193del
NP_000011.2:p.Glu65fs
NP_001070869.1:p.Glu65fs
LRG_543t1:c.193del
LRG_543:g.10813del
NC_000012.11:g.52307013del
NC_000012.11:g.52307014del
NM_000020.2:c.193delG

Protein change:

E65fs

Links:

dbSNP: rs2139065161

NCBI 1000 Genomes Browser:

rs2139065161

Molecular consequence:

NM_000020.3:c.193del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077401.2:c.193del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002720834	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 29, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002720834

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 29, 2021)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002720834.2

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

Description

The c.193delG pathogenic mutation, located in coding exon 2 of the ACVRL1 gene, results from a deletion of one nucleotide at nucleotide position 193, causing a translational frameshift with a predicted alternate stop codon (p.E65Nfs*57). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 1, 2024

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