NM_000020.3(ACVRL1):c.18dup (p.Arg7fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 11, 2018
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:: RCV002408231.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.18dup (p.Arg7fs)]

NM_000020.3(ACVRL1):c.18dup (p.Arg7fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_000020.3(ACVRL1):c.18dup (p.Arg7fs)

HGVS:

NC_000012.12:g.51912492dup
NG_009549.1:g.10075dup
NM_000020.3:c.18dupMANE SELECT
NM_001077401.2:c.18dup
NM_001406487.1:c.18dup
NM_001406488.1:c.18dup
NM_001406489.1:c.18dup
NM_001406490.1:c.18dup
NM_001406491.1:c.18dup
NM_001406492.1:c.18dup
NM_001406493.1:c.18dup
NM_001406494.1:c.18dup
NM_001406495.1:c.18dup
NP_000011.2:p.Arg7Glnfs
NP_000011.2:p.Arg7fs
NP_001070869.1:p.Arg7fs
NP_001393416.1:p.Arg7Glnfs
NP_001393417.1:p.Arg7Glnfs
NP_001393418.1:p.Arg7Glnfs
NP_001393419.1:p.Arg7Glnfs
NP_001393420.1:p.Arg7Glnfs
NP_001393421.1:p.Arg7Glnfs
NP_001393422.1:p.Arg7Glnfs
NP_001393423.1:p.Arg7Glnfs
NP_001393424.1:p.Arg7Glnfs
LRG_543t1:c.18dup
LRG_543:g.10075dup
LRG_543p1:p.Arg7Glnfs
NC_000012.11:g.52306276dup
NM_000020.2:c.18dup
NM_000020.2:c.18dupC

Protein change:

R7fs

Molecular consequence:

NM_000020.3:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077401.2:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406487.1:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406488.1:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406489.1:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406490.1:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406491.1:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406492.1:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406493.1:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406494.1:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406495.1:c.18dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Homo sapiens FERM domain containing 8 (FRMD8), transcript variant 1, mRNA
Homo sapiens FERM domain containing 8 (FRMD8), transcript variant 1, mRNA
gi|1519315772|ref|NM_031904.5|

Nucleotide
Homo sapiens Jrk helix-turn-helix protein (JRK), transcript variant 1, mRNA
Homo sapiens Jrk helix-turn-helix protein (JRK), transcript variant 1, mRNA
gi|1705442040|ref|NM_003724.4|

Nucleotide
glycoside hydrolase family 2 protein [Blautia pseudococcoides]
glycoside hydrolase family 2 protein [Blautia pseudococcoides]
gi|1957933713|gnl|PRJNA680355|I5Q86 5|gb|QQQ93614.1|

Protein
transcription factor, Fur family [synthetic bacterium JCVI-Syn3.0]
transcription factor, Fur family [synthetic bacterium JCVI-Syn3.0]
gi|1015828636|gb|AMW76581.1||gnl|PR 2950|JCVISYN3_0620

Protein
FS400464 normalized full-length tobacco cDNA library Nicotiana tabacum cDNA clon...
FS400464 normalized full-length tobacco cDNA library Nicotiana tabacum cDNA clone TBK01A01NGRL0077_4_C06 5', mRNA sequence
gi|254604633|gnl|dbEST|66633142|dbj 0464.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002723624	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 11, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002723624

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 11, 2018)

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, SCV002723624.2

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

Description

The c.18dupC pathogenic mutation, located in coding exon 1 of the ACVRL1 gene, results from a duplication of C at nucleotide position 18, causing a translational frameshift with a predicted alternate stop codon (p.R7Qfs*31). 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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