21-42903351-G-A
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_021075.4(NDUFV3):c.339G>A(p.Pro113=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0729 in 1,614,102 control chromosomes in the GnomAD database, including 5,013 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Genomes: 𝑓 0.065 ( 418 hom., cov: 32)
Exomes 𝑓: 0.074 ( 4595 hom. )
Consequence
NDUFV3
NM_021075.4 synonymous
NM_021075.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.597
Genes affected
NDUFV3 (HGNC:7719): (NADH:ubiquinone oxidoreductase subunit V3) The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.79).
BP6
Variant 21-42903351-G-A is Benign according to our data. Variant chr21-42903351-G-A is described in ClinVar as [Benign]. Clinvar id is 3056561.Status of the report is no_assertion_criteria_provided, 0 stars.
BP7
Synonymous conserved (PhyloP=-0.597 with no splicing effect.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.143 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFV3 | NM_021075.4 | c.339G>A | p.Pro113= | synonymous_variant | 3/4 | ENST00000354250.7 | NP_066553.3 | |
NDUFV3 | XM_011529586.3 | c.339G>A | p.Pro113= | synonymous_variant | 3/5 | XP_011527888.1 | ||
NDUFV3 | NM_001001503.2 | c.170-5513G>A | intron_variant | NP_001001503.1 | ||||
NDUFV3 | XM_017028359.2 | c.170-3489G>A | intron_variant | XP_016883848.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDUFV3 | ENST00000354250.7 | c.339G>A | p.Pro113= | synonymous_variant | 3/4 | 1 | NM_021075.4 | ENSP00000346196 | ||
NDUFV3 | ENST00000340344.4 | c.170-5513G>A | intron_variant | 1 | ENSP00000342895 | P1 | ||||
NDUFV3 | ENST00000460259.1 | n.862G>A | non_coding_transcript_exon_variant | 5/6 | 2 | |||||
NDUFV3 | ENST00000460740.1 | n.231G>A | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0653 AC: 9928AN: 152100Hom.: 417 Cov.: 32
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GnomAD3 exomes AF: 0.0820 AC: 20610AN: 251490Hom.: 1002 AF XY: 0.0853 AC XY: 11599AN XY: 135922
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GnomAD4 exome AF: 0.0737 AC: 107699AN: 1461884Hom.: 4595 Cov.: 31 AF XY: 0.0763 AC XY: 55522AN XY: 727244
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GnomAD4 genome AF: 0.0653 AC: 9943AN: 152218Hom.: 418 Cov.: 32 AF XY: 0.0669 AC XY: 4978AN XY: 74424
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
NDUFV3-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 02, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at