VCV000636278.4 - ClinVar

NM_001352754.2(ARMC9):c.-41-2521_177+2986del

Germline

Classification

criteria provided, single submitter. Learn more about how ClinVar calculates review status.

Uncertain significance

This classification is based on the single submission received

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001352754.2(ARMC9):c.-41-2521_177+2986del

Variation ID: 636278 Accession: VCV000636278.4

Type and length

Deletion, 7,562 bp

Location

Cytogenetic: 2q37.1 2: 231203677-231211238 (GRCh38) [ NCBI UCSC ] 2: 232068390-232075951 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jul 27, 2019	Apr 13, 2025	Jan 7, 2019

HGVS

Nucleotide	Protein	Molecular consequence
NM_001352754.2:c.-41-2521_177+2986del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		splice acceptor splice donor initiator codon variant
NM_001271466.4:c.-41-2521_177+2986del		splice acceptor splice donor initiator codon variant
NM_001291656.2:c.-39-2523_177+2986del		splice acceptor splice donor initiator codon variant
NM_001352755.2:c.-41-2521_177+2986del		splice acceptor splice donor initiator codon variant
NM_001352756.2:c.-41-2521_177+2986del		splice acceptor splice donor initiator codon variant
NM_001352757.2:c.-41-2521_177+2986del		splice acceptor splice donor initiator codon variant
NM_001352758.2:c.-39-2523_177+2986del		splice acceptor splice donor initiator codon variant
NM_001352759.2:c.-41-2521_177+2986del		splice acceptor splice donor initiator codon variant
NM_025139.6:c.-41-2521_177+2986del		splice acceptor splice donor initiator codon variant
NC_000002.12:g.231203677_231211238del
NC_000002.11:g.232068390_232075951del

... more HGVS ... less HGVS

Protein change

Other names

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA915941774 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
ARMC9		-	-	GRCh38 GRCh37	651	720

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Joubert syndrome 30	Uncertain significance (1)	criteria provided, single submitter	Jan 7, 2019	RCV000788054.3

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Uncertain significance (Jan 07, 2019) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Joubert syndrome 30 (Autosomal recessive inheritance) Affected status: yes Allele origin: paternal	Undiagnosed Diseases Network, NIH Accession: SCV000927070.3 First in ClinVar: Jul 27, 2019 Last updated: Apr 13, 2025	Number of individuals with the variant: 1 Clinical Features: Sleep apnea (present) , Short stature (present) , Severe global developmental delay (present) , Self-injurious behavior (present) , Self-biting (present) , Relative macrocephaly (present) , Prolonged neonatal jaundice (present) , Primary Caesarian section (present) , Poor suck (present) , Optic nerve hypoplasia (present) , Optic disc pallor (present) , Nystagmus (present) , Neonatal respiratory distress (present) , Molar tooth sign on MRI (present) , Intellectual disability, severe (present) , Hypoplasia of the corpus callosum (present) , Hypertelorism (present) , Hand clenching (present) , Hypertropia (present) , Gastroesophageal reflux (present) , Frontal bossing (present) , Feeding difficulties (present) , Failure to thrive (present) , Exotropia (present) , Delayed skeletal maturation (present) , Congenital bilateral ptosis (present) , Central hypotonia (present) , Caesarian section (present) , Brachycephaly (present) , Bilateral postaxial polydactyly (present) , Atopic dermatitis (present) , Abnormal facial shape (present) , Abnormal delivery (present) Zygosity: Compound Heterozygote Age: 0-9 years Sex: male Ethnicity/Population group: African American Tissue: blood Testing laboratory: HudsonAlpha Clinical Services Lab, LLC, HudsonAlpha Clinical Services Lab, LLC

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for this variant ...

Record last updated Apr 13, 2025

ClinVar Genomic variation as it relates to human health

NM_001352754.2(ARMC9):c.-41-2521_177+2986del

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...