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NM_012463.4(ATP6V0A2):c.117+14G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 30, 2021)
Last evaluated:
Apr 25, 2018
Accession:
VCV000385242.3
Variation ID:
385242
Description:
single nucleotide variant
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NM_012463.4(ATP6V0A2):c.117+14G>A

Allele ID
372875
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 123712696 (GRCh38) GRCh38 UCSC
12: 124197243 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.124197243G>A
NC_000012.12:g.123712696G>A
NG_012743.1:g.5379G>A
NM_012463.4:c.117+14G>A MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:123712695:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00659 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00703
Exome Aggregation Consortium (ExAC) 0.00188
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00609
1000 Genomes Project 0.00659
The Genome Aggregation Database (gnomAD) 0.00664
The Genome Aggregation Database (gnomAD), exomes 0.00138
Links
ClinGen: CA6861478
dbSNP: rs144930749
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001113216.1
Benign 1 criteria provided, single submitter Apr 25, 2018 RCV001720235.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP6V0A2 - - GRCh38
GRCh37
363 397

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Cutis laxa with osteodystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001270972.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000526443.4
Submitted: (Sep 30, 2021)
Evidence details

Functional evidence

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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 this variant

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

Text-mined citations for rs144930749...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 09, 2021