chr16-56666810-G-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000568675.1(MT1G):n.624C>A 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 0.0757 in 1,584,032 control chromosomes in the GnomAD database, including 6,045 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
Consequence
ENST00000568675.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MT1G | ENST00000568675.1 | n.624C>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 1 | |||||
MT1G | ENST00000379811.4 | c.*69C>A | 3_prime_UTR_variant | Exon 3 of 3 | 1 | NM_001301267.2 | ENSP00000369139.4 | |||
MT1G | ENST00000444837.6 | c.*69C>A | 3_prime_UTR_variant | Exon 3 of 3 | 1 | ENSP00000391397.2 | ||||
MT1G | ENST00000569500.5 | c.*69C>A | 3_prime_UTR_variant | Exon 2 of 2 | 3 | ENSP00000456675.1 |
Frequencies
GnomAD3 genomes AF: 0.0805 AC: 12248AN: 152152Hom.: 701 Cov.: 33 show subpopulations
GnomAD4 exome AF: 0.0752 AC: 107656AN: 1431762Hom.: 5341 Cov.: 30 AF XY: 0.0758 AC XY: 53806AN XY: 710272 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0805 AC: 12265AN: 152270Hom.: 704 Cov.: 33 AF XY: 0.0836 AC XY: 6223AN XY: 74444 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at