rs6441961
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000417777.1(UQCRC2P1):n.1030A>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.736 in 152,168 control chromosomes in the GnomAD database, including 41,615 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.74 ( 41615 hom., cov: 33)
Exomes 𝑓: 0.93 ( 1056 hom. )
Failed GnomAD Quality Control
Consequence
UQCRC2P1
ENST00000417777.1 non_coding_transcript_exon
ENST00000417777.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.174
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.64).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.843 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UQCRC2P1 | ENST00000417777.1 | n.1030A>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.736 AC: 111856AN: 152050Hom.: 41555 Cov.: 33
GnomAD3 genomes
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.929 AC: 2278AN: 2452Hom.: 1056 Cov.: 0 AF XY: 0.916 AC XY: 1151AN XY: 1256
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
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2278
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2452
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0
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GnomAD4 genome ? AF: 0.736 AC: 111968AN: 152168Hom.: 41615 Cov.: 33 AF XY: 0.732 AC XY: 54450AN XY: 74402
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at