rs2052741
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XR_001749264.2(LOC105369915):n.404-12475G>T 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 0.0000592 in 151,958 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
XR_001749264.2 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 |
---|---|---|---|---|---|---|---|
LOC105369915 | XR_001749264.2 | n.404-12475G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105369915 | XR_945226.2 | n.514+448G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFA12 | ENST00000552205.6 | c.*180-12475G>T | intron_variant, NMD_transcript_variant | 5 | |||||
NDUFA12 | ENST00000547447.1 | n.272+448G>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000593 AC: 9AN: 151840Hom.: 0 Cov.: 31
GnomAD4 genome ? AF: 0.0000592 AC: 9AN: 151958Hom.: 0 Cov.: 31 AF XY: 0.0000943 AC XY: 7AN XY: 74256
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at