ClinVar Genomic variation as it relates to human health
NM_017866.6(TMEM70):c.317-2A>G
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.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_017866.6(TMEM70):c.317-2A>G
Variation ID: 540 Accession: VCV000000540.53
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q21.11 8: 73981153 (GRCh38) [ NCBI UCSC ] 8: 74893388 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 May 23, 2015 Apr 15, 2024 Jan 22, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_017866.6:c.317-2A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice acceptor NM_001040613.3:c.*7-2A>G splice acceptor NM_017866.4:c.317-2A>G NC_000008.11:g.73981153A>G NC_000008.10:g.74893388A>G NG_016618.1:g.10012A>G - Protein change
- Other names
- IVS2AS, A-G, -2
- Canonical SPDI
- NC_000008.11:73981152:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe 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.
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0.00020 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00007
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00012
1000 Genomes Project 0.00020
1000 Genomes Project 30x 0.00031
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 | ||
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HI score
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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. |
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TMEM70 | - | - |
GRCh38 GRCh37 |
302 | 349 |
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. |
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Pathogenic (12) |
criteria provided, multiple submitters, no conflicts
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Jan 22, 2024 | RCV000000570.35 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Jan 1, 2023 | RCV000390940.24 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 13, 2023 | RCV003389034.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Sep 30, 2022 | RCV003128385.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 28, 2023 | RCV003415606.4 |
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. |
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Pathogenic
(Aug 22, 2018)
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criteria provided, single submitter
Method: clinical testing
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000915260.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The TMEM70 c.317-2A>G variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product.Across a selection … (more)
The TMEM70 c.317-2A>G variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product.Across a selection of available literature, the c.317-2A>G variant has been reported in a homozygous state in 36 probands with mitochondrial complex V (ATP Synthase) deficiency, nuclear type (Cizkova et al. 2008; Tort et al. 2011; Braczynski et al. 2015). Cizkova et al. (2008) further demonstrated segregation of the c.317-2A>G variant in six families, in which all the affected individuals were homozygous, all parents were heterozygous, and unaffected siblings were either wild type or heterozygous for the variant. The c.317-2A>G variant was absent from 101 controls and is reported at a frequency of 0.00035 in the Latino population of the Exome Aggregation Consortium. The c.317-2A>G variant occurs at a canonical splice site and has been shown to result in aberrant splicing and loss of the transcript (Cizkova et al. 2008; Hejzlarova et al. 2011). Functional studies using fibroblasts from probands harboring the c.317-2A>G variant showed a significant deficiency in ATP synthase compared with control cells, and ultrastructural analysis revealed defects in mitochondrial morphology (HavlÃÄková Karbanová et al. 2012; Braczynski et al. 2015). Based on the collective evidence, the c.317-2A>G variant is classified as pathogenic for mitochondrial complex V (ATP Synthase) deficiency, nuclear type. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Sep 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
Additional submitter:
CUBI - Core Unit Bioinformatics, Berlin Institute of Health
Accession: SCV002574817.1
First in ClinVar: Sep 24, 2022 Last updated: Sep 24, 2022 |
Clinical Features:
Premature birth (present) , Tachypnea (present) , Lactic acidosis (present) , Abnormality of the mitochondrion (present) , Cephalohematoma (present)
Sex: male
Tissue: Blood
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Pathogenic
(Feb 17, 2022)
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criteria provided, single submitter
Method: clinical testing
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002811690.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Jan 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV003801136.2
First in ClinVar: Feb 13, 2023 Last updated: Nov 11, 2023 |
Comment:
Variant summary: TMEM70 c.317-2A>G is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to … (more)
Variant summary: TMEM70 c.317-2A>G is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: four predict the variant abolishes a 3' acceptor site. At least one publication reports experimental evidence that this variant affects mRNA splicing (e.g., Cizkova_2008). The variant allele was found at a frequency of 7.2e-05 in 250692 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in TMEM70 causing Complex V Deficiency, Nuclear Type 2 (7.2e-05 vs 0.0011), allowing no conclusion about variant significance. c.317-2A>G has been reported in the literature in multiple individuals affected with Complex V Deficiency, Nuclear Type 2 with co-segregation data providing strong evidence for causality (e.g., Cizkova_2008, Cameron_2011, Braczynski_2015, Torraco_2012). These data indicate that the variant is very likely to be associated with disease. Several publications report experimental evidence evaluating an impact on protein function, showing the variant results in a strong reduction in ATP synthesis activity (ranging from 40% to 95% reduction in activity depending on patient and type of tissue) (Cizkova_2008, Cameron_2011, Torraco_2012, Havlickova-Karbanova_2012, Braczynski_2015) as well as a complete absense of TMEM70 protein (Hejzlarova_2011, Torraco_2012) or mRNA (Torraco_2012) in patient fibroblasts. 12 ClinVar submitters (evaluation after 2014) have cited this variant, and all laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Mar 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
Accession: SCV004032459.1
First in ClinVar: Sep 09, 2023 Last updated: Sep 09, 2023 |
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Pathogenic
(Apr 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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TMEM70-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004113915.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The TMEM70 c.317-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported to be … (more)
The TMEM70 c.317-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported to be pathogenic in patients with neonatal mitochondrial encephalocardiomyopathy (Cízková et al. 2008. PubMed ID: 18953340; Honzík et al. 2010. PubMed ID: 20335238). Functional studies showed this variant leads to absence of the TMEM70 protein and reduction in functional ATP synthase to less than 30% of control values (Havlícková Karbanová et al. 2012. PubMed ID: 22433607). This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-74893388-A-G). Variants that disrupt the consensus splice acceptor site in TMEM70 are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Jan 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003820358.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 22, 2024)
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criteria provided, single submitter
Method: clinical testing
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001374009.4
First in ClinVar: Jul 16, 2020 Last updated: Feb 28, 2024 |
Comment:
This sequence change affects an acceptor splice site in intron 2 of the TMEM70 gene. While this variant is not anticipated to result in nonsense … (more)
This sequence change affects an acceptor splice site in intron 2 of the TMEM70 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs183973249, gnomAD 0.02%). Disruption of this splice site has been observed in individuals with mitochondrial complex V (ATP synthase) deficiency (PMID: 18953340, 26550569). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 540). Studies have shown that disruption of this splice site alters TMEM70 gene expression (PMID: 1895334). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001249595.20
First in ClinVar: May 09, 2020 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 3
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Pathogenic
(May 22, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000610483.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447095.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Decreased liver function (present) , Pulmonary arterial hypertension (present) , Lactic acidosis (present) , Abnormality of mitochondrial metabolism (present)
Sex: male
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Pathogenic
(Nov 22, 2018)
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criteria provided, single submitter
Method: clinical testing
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001367701.2
First in ClinVar: Jul 04, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP5.
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Pathogenic
(Mar 25, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000329823.6
First in ClinVar: Dec 06, 2016 Last updated: Apr 17, 2019 |
Comment:
Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; cDNA analysis found that c.317-2A>G leads to abnormal splicing … (more)
Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; cDNA analysis found that c.317-2A>G leads to abnormal splicing and loss of normal TMEM70 transcript (Cizkova et al. 2008); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29678161, 30096161, 24485043, 27649480, 31729175, 20335238, 18953340, 21815885, 22433607, 26550569, 29502919, 31589614) (less)
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Pathogenic
(Jul 27, 2021)
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criteria provided, single submitter
Method: research
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Affected status: yes
Allele origin:
maternal
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HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: CSER-SouthSeq
Accession: SCV002012492.1 First in ClinVar: Nov 11, 2021 Last updated: Nov 11, 2021 |
Comment:
ACMG codes: PVS1; PS3; PS4; PM2; PP1; PP5
Number of individuals with the variant: 1
Clinical Features:
Oligohydramnios (present) , Fetal growth restriction (present) , Small for gestational age (present) , Birth length less than 3rd percentile (present) , Hypoplastic aortic arch … (more)
Oligohydramnios (present) , Fetal growth restriction (present) , Small for gestational age (present) , Birth length less than 3rd percentile (present) , Hypoplastic aortic arch (present) , Tricuspid regurgitation (present) (less)
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Pathogenic
(Nov 16, 2017)
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criteria provided, single submitter
Method: clinical testing
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Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
Accession: SCV000680409.3
First in ClinVar: Feb 08, 2018 Last updated: Dec 24, 2022 |
Number of individuals with the variant: 1
Clinical Features:
Diastasis recti (present) , Low posterior hairline (present) , Hypothermia (present) , Hyponatremia (present) , Hypotonia (present) , Poor suck (present) , Lactic acidosis (present)
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Pathogenic
(Jun 05, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics Inc
Accession: SCV002817231.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
Comment:
This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. The frequency of this variant in the general population … (more)
This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been detected homozygous or compound heterozygous in multiple individuals with clinical features consistent with this disorder (PMID: 26550569, 24485043, 21815885, 18953340, and 20335238). This variant segregates with disease in multiple families (PMID: 26550569, 24485043, and 18953340). Assessment of experimental evidence suggests this variant results in abnormal protein function (PMID: 22433607, 20937241, and 18953340).This observation is not an independent occurrence and has been identified in the same individual by RCIGM, the other laboratory participating in the GEMINI study. (less)
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Likely pathogenic
(Sep 30, 2022)
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criteria provided, single submitter
Method: clinical testing
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see cases
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University Hospital Muenster
Accession: SCV003804841.1
First in ClinVar: Mar 04, 2023 Last updated: Mar 04, 2023 |
Comment:
ACMG categories: PVS1,PM2
Number of individuals with the variant: 1
Clinical Features:
Mitochondrial respiratory chain defects (present)
Age: 0-9 years
Sex: female
Tissue: blood
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Pathogenic
(Feb 25, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV003834906.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Jul 19, 2022)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV004026105.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
Comment:
PS4, PP3, PM2_SUP, PVS1_STR
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Pathogenic
(Mar 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Neurodevelopmental disorder
Affected status: yes
Allele origin:
germline
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Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
Accession: SCV004101236.1
First in ClinVar: Nov 11, 2023 Last updated: Nov 11, 2023 |
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Pathogenic
(Mar 01, 2014)
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no assertion criteria provided
Method: literature only
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MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000020719.5
First in ClinVar: Apr 04, 2013 Last updated: Aug 15, 2020 |
Comment on evidence:
In affected members of 6 families with mitochondrial complex V deficiency nuclear type 2 (MC5DN2; 614052), Cizkova et al. (2008) identified a homozygous A-to-G transition … (more)
In affected members of 6 families with mitochondrial complex V deficiency nuclear type 2 (MC5DN2; 614052), Cizkova et al. (2008) identified a homozygous A-to-G transition in intron 2 of the TMEM70 gene (c.317-2A-G), resulting in aberrant splicing and loss of the mRNA transcript. The same homozygous mutation was identified in 23 additional patients. One patient was compound heterozygous for this mutation and a 2-bp insertion (118_119insGT; 612418.0002). Catteruccia et al. (2014) identified a homozygous c.317-2A-G mutation in 6 of 9 patients with MC5DN2. (less)
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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
HelpTitle | Author | Journal | Year | Link |
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ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. | Braczynski AK | BioMed research international | 2015 | PMID: 26550569 |
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. | Catteruccia M | Molecular genetics and metabolism | 2014 | PMID: 24485043 |
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. | Torraco A | Neurogenetics | 2012 | PMID: 22986587 |
Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation. | Havlíčková Karbanová V | Biochimica et biophysica acta | 2012 | PMID: 22433607 |
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. | Tort F | Clinical genetics | 2011 | PMID: 21815885 |
Expression and processing of the TMEM70 protein. | Hejzlarová K | Biochimica et biophysica acta | 2011 | PMID: 20937241 |
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. | Cameron JM | Mitochondrion | 2011 | PMID: 20920610 |
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. | Cízková A | Nature genetics | 2008 | PMID: 18953340 |
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. | Buratti E | Nucleic acids research | 2007 | PMID: 17576681 |
Statistical features of human exons and their flanking regions. | Zhang MQ | Human molecular genetics | 1998 | PMID: 9536098 |
Deciduous dentition eruption sequence of the laboratory-reared chimpanzee (Pan troglodytes). | Mooney MP | Journal of medical primatology | 1991 | PMID: 1895334 |
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Text-mined citations for rs183973249 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.