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NM_001130021.3(ATP6V0A1):c.196+1G>A AND Neurodevelopmental disorder with epilepsy and brain atrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 26, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002271324.1

Allele description [Variation Report for NM_001130021.3(ATP6V0A1):c.196+1G>A]

NM_001130021.3(ATP6V0A1):c.196+1G>A

Gene:
ATP6V0A1:ATPase H+ transporting V0 subunit a1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_001130021.3(ATP6V0A1):c.196+1G>A
HGVS:
  • NC_000017.11:g.42466508G>A
  • NG_047037.1:g.12665G>A
  • NM_001130020.3:c.196+1G>A
  • NM_001130021.3:c.196+1G>AMANE SELECT
  • NM_001378522.1:c.196+1G>A
  • NM_001378523.1:c.196+1G>A
  • NM_001378530.1:c.196+1G>A
  • NM_001378531.1:c.196+1G>A
  • NM_001378532.1:c.196+1G>A
  • NM_001378533.1:c.196+1G>A
  • NM_001378534.1:c.196+1G>A
  • NM_001378535.1:c.196+1G>A
  • NM_001378536.1:c.196+1G>A
  • NM_001378537.1:c.196+1G>A
  • NM_001378538.1:c.196+1G>A
  • NM_001378539.1:c.196+1G>A
  • NM_001378540.1:c.196+1G>A
  • NM_001378541.1:c.196+1G>A
  • NM_001378542.1:c.196+1G>A
  • NM_001378543.1:c.16+1G>A
  • NM_001378544.1:c.196+1G>A
  • NM_001378545.1:c.196+1G>A
  • NM_001378546.1:c.196+1G>A
  • NM_001378547.1:c.196+1G>A
  • NM_001378548.1:c.196+1G>A
  • NM_001378549.1:c.16+1G>A
  • NM_001378550.1:c.196+1G>A
  • NM_001378551.1:c.196+1G>A
  • NM_001378552.1:c.196+1G>A
  • NM_001378554.1:c.196+1G>A
  • NM_001378556.1:c.196+1G>A
  • NM_001378557.1:c.196+1G>A
  • NM_005177.5:c.196+1G>A
  • NC_000017.10:g.40618526G>A
  • NM_001130020.1:c.196+1G>A
Nucleotide change:
IVS2, +1, G-A
Links:
OMIM: 192130.0005
Molecular consequence:
  • NM_001130020.3:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130021.3:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378522.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378523.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378530.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378531.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378532.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378533.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378534.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378535.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378536.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378537.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378538.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378539.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378540.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378541.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378542.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378543.1:c.16+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378544.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378545.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378546.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378547.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378548.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378549.1:c.16+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378550.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378551.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378552.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378554.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378556.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378557.1:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005177.5:c.196+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA)
Identifiers:
MONDO: MONDO:0859265; MedGen: C5774184; OMIM: 619971

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002553203OMIM
no assertion criteria provided
Pathogenic
(Jul 26, 2022) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice.

Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, et al.

Nat Commun. 2021 Apr 8;12(1):2107. doi: 10.1038/s41467-021-22389-5.

PubMed [citation]
PMID:
33833240
PMCID:
PMC8032687

Details of each submission

From OMIM, SCV002553203.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.196+1G-A transition (c.196+1G-A, NM_001130020.1) in intron 2 of the ATP6V0A1 gene, predicted to result in a splicing abnormality, that was identified in compound heterozygous state in a patient with neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA; 619971) by Aoto et al. (2021), see 192130.0004.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023