16-56652598-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM1BP4_StrongBS2
The NM_005947.3(MT1B):āc.56G>Cā(p.Cys19Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0055 in 1,613,984 control chromosomes in the GnomAD database, including 43 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005947.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MT1B | ENST00000334346.3 | c.56G>C | p.Cys19Ser | missense_variant | Exon 2 of 3 | 1 | NM_005947.3 | ENSP00000334998.2 | ||
MT1B | ENST00000562399.1 | c.56G>C | p.Cys19Ser | missense_variant | Exon 2 of 3 | 3 | ENSP00000456056.1 | |||
ENSG00000259923 | ENST00000568608.1 | n.206G>C | non_coding_transcript_exon_variant | Exon 3 of 3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00627 AC: 954AN: 152196Hom.: 6 Cov.: 33
GnomAD3 exomes AF: 0.00463 AC: 1165AN: 251486Hom.: 10 AF XY: 0.00471 AC XY: 640AN XY: 135920
GnomAD4 exome AF: 0.00542 AC: 7926AN: 1461670Hom.: 37 Cov.: 34 AF XY: 0.00539 AC XY: 3918AN XY: 727136
GnomAD4 genome AF: 0.00627 AC: 955AN: 152314Hom.: 6 Cov.: 33 AF XY: 0.00623 AC XY: 464AN XY: 74476
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at