NM_001111067.4(ACVR1):c.332-12_361del AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 26, 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:: RCV003701779.2

Allele description [Variation Report for NM_001111067.4(ACVR1):c.332-12_361del]

NM_001111067.4(ACVR1):c.332-12_361del

Gene:

ACVR1:activin A receptor type 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q24.1

Genomic location:

Preferred name:

NM_001111067.4(ACVR1):c.332-12_361del

HGVS:

NC_000002.12:g.157778318_157778359del
NG_008004.1:g.101758_101799del
NM_001105.5:c.332-12_361del
NM_001111067.4:c.332-12_361delMANE SELECT
NM_001347663.1:c.332-12_361del
NM_001347664.1:c.332-12_361del
NM_001347665.1:c.332-12_361del
NM_001347666.1:c.332-12_361del
NM_001347667.2:c.332-12_361del
NC_000002.11:g.158634825_158634866del
NC_000002.11:g.158634830_158634871del

Molecular consequence:

NM_001105.5:c.332-12_361del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001111067.4:c.332-12_361del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001347663.1:c.332-12_361del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001347664.1:c.332-12_361del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001347665.1:c.332-12_361del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001347666.1:c.332-12_361del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001347667.2:c.332-12_361del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Agaricus cf. chionodermus RWK_2216 internal transcribed spacer 1, partial sequen...
Agaricus cf. chionodermus RWK_2216 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|1044696955|gb|KJ877757.1|

Nucleotide
MAG: alanine aminotransferase [Thermoplasmatales archaeon SG8-52-4]
MAG: alanine aminotransferase [Thermoplasmatales archaeon SG8-52-4]
gi|1008840920|gb|KYK24213.1||gnl|WG F|AYK24_06480

Protein
MAG: quinolinate synthetase [Thermoplasmatales archaeon SG8-52-4]
MAG: quinolinate synthetase [Thermoplasmatales archaeon SG8-52-4]
gi|1008840934|gb|KYK24227.1||gnl|WG F|AYK24_06530

Protein
dystrobrevin beta isoform 19 [Homo sapiens]
dystrobrevin beta isoform 19 [Homo sapiens]
gi|1190332520|ref|NP_001338314.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004458460	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 26, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16199547, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004458460

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 26, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]

PMID:: 16199547
PMCID:: PMC1735933

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004458460.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ACVR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant results in the deletion of part of exon 5 (c.332-12_361del) of the ACVR1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACVR1 cause disease.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine