rs147787116
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBS1BS2
The NM_007103.4(NDUFV1):c.1163-12del variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00166 in 1,613,708 control chromosomes in the GnomAD database, including 36 homozygotes. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.0093 ( 20 hom., cov: 32)
Exomes 𝑓: 0.00086 ( 16 hom. )
Consequence
NDUFV1
NM_007103.4 splice_polypyrimidine_tract, intron
NM_007103.4 splice_polypyrimidine_tract, intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.10
Genes affected
NDUFV1 (HGNC:7716): (NADH:ubiquinone oxidoreductase core subunit V1) The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -16 ACMG points.
BP6
?
Variant 11-67612107-GC-G is Benign according to our data. Variant chr11-67612107-GC-G is described in ClinVar as [Likely_benign]. Clinvar id is 214844.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00929 (1411/151920) while in subpopulation AFR AF= 0.0323 (1339/41402). AF 95% confidence interval is 0.0309. There are 20 homozygotes in gnomad4. There are 659 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 20 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFV1 | NM_007103.4 | c.1163-12del | splice_polypyrimidine_tract_variant, intron_variant | ENST00000322776.11 | |||
NDUFV1 | NM_001166102.2 | c.1136-12del | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFV1 | ENST00000322776.11 | c.1163-12del | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_007103.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00928 AC: 1409AN: 151802Hom.: 20 Cov.: 32
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GnomAD3 exomes AF: 0.00256 AC: 643AN: 251210Hom.: 9 AF XY: 0.00198 AC XY: 269AN XY: 135812
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GnomAD4 exome AF: 0.000863 AC: 1261AN: 1461788Hom.: 16 Cov.: 32 AF XY: 0.000716 AC XY: 521AN XY: 727190
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GnomAD4 genome ? AF: 0.00929 AC: 1411AN: 151920Hom.: 20 Cov.: 32 AF XY: 0.00888 AC XY: 659AN XY: 74250
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:3
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Sep 04, 2015 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 28, 2012 | The variant is found in MITONUC-MITOP panel(s). - |
Computational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at