Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Link to SEPIO compliant JSON-LD document
  • No ClinVar Id was directly found from the curated document

Variant: NM_001077401.2:c.620del

CA2740089968

Gene: ACVRL1
Condition: telangiectasia, hereditary hemorrhagic, type 2
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 8184f831-29bc-4823-b42a-9c3e5cf83a07
Approved on: 2024-03-15
Published on: 2024-03-15

HGVS expressions

NM_001077401.2:c.620del
NC_000012.12:g.51914068del
CM000674.2:g.51914068del
NC_000012.11:g.52307852del
CM000674.1:g.52307852del
NC_000012.10:g.50594119del
NG_009549.1:g.11651del
ENST00000547400.6:c.356-371del
ENST00000551576.6:c.620del
ENST00000552678.2:c.620del
ENST00000388922.9:c.620del
ENST00000388922.8:c.620del
ENST00000419526.6:c.104-371del
ENST00000547400.5:c.356-371del
ENST00000550683.5:c.662del
NM_000020.2:c.620del
NM_001077401.1:c.620del
NM_000020.3:c.620del

Pathogenic

Met criteria codes 3
PS4_Supporting PM2_Supporting PVS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACVRL1 Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hereditary Hemorrhagic Telangiectasia VCEP
The NM_000020.3: c.620del (p.Cys207Leufs*51) variant in ACVRL1 is a frameshift variant predicted to cause a premature stop codon in biologically relevant exon 5 (out of 10) leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). This variant has been reported in a proband with a phenotype consistent of HHT (PS4_Supporting; Internal lab contributors). In summary, this variant meets the criteria to be classified as pathogenic for autosomal dominant hereditary hemorrhagic telangiectasia based on the ACMG/AMP criteria applied, as specified by the ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel: PVS1, PM2_Supporting, PS4_Supporting (specification version 1.0.0; 1/4/2024).
Met criteria codes
PS4_Supporting
This variant has been reported in a proband with a phenotype consistent of HHT (PS4_Supporting; Internal lab contributors).
PM2_Supporting
This variant is absent from gnomAD v2.1.1 (PM2_Supporting).
PVS1
The NM_000020.3: c.620del (p.Cys207Leufs*51) variant in ACVRL1 is a frameshift variant predicted to cause a premature stop codon in biologically relevant exon 5 (out of 10) leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.