rs1080985
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000439129.5(NDUFA6-DT):n.1719-3824G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000199 in 150,504 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
Consequence
ENST00000439129.5 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFA6-DT | ENST00000439129.5 | n.1719-3824G>A | intron_variant, non_coding_transcript_variant | 5 | |||||
NDUFA6-DT | ENST00000617009.4 | n.166G>A | non_coding_transcript_exon_variant | 2/5 | 5 | ||||
NDUFA6-DT | ENST00000621190.1 | n.166G>A | non_coding_transcript_exon_variant | 2/8 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000199 AC: 3AN: 150504Hom.: 0 Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 150Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 116
GnomAD4 genome ? AF: 0.0000199 AC: 3AN: 150504Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at