NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2022
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:: RCV003481162.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)]

NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)

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.1415G>A (p.Trp472Ter)

Other names:

p.Trp472*

HGVS:

NC_000012.12:g.51920796G>A
NG_009549.1:g.18379G>A
NM_000020.2:c.1415G>A
NM_000020.3:c.1415G>AMANE SELECT
NM_001077401.2:c.1415G>A
NP_000011.2:p.Trp472Ter
NP_001070869.1:p.Trp472Ter
LRG_543:g.18379G>A
NC_000012.11:g.52314580G>A

Protein change:

W472*

Links:

dbSNP: rs1555154144

NCBI 1000 Genomes Browser:

rs1555154144

Molecular consequence:

NM_000020.3:c.1415G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001077401.2:c.1415G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004226870	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 33754658, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004226870

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Novel Variant in the ACVRL1 Gene in a Patient with Cirrhosis and Hereditary Hemorrhagic Telangiectasia

Baysal M, Alkış N, Gürkan H, Demir AM.

Turk J Haematol. 2021 Aug 25;38(3):241-243. doi: 10.4274/tjh.galenos.2021.2020.0749. Epub 2021 Mar 23. No abstract available.

PubMed [citation]

PMID:: 33754658
PMCID:: PMC8386306

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, SCV004226870.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

PM2_supporting, PS4_supporting, PVS1_strong

#	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		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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