chr8-66592542-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PP3_ModerateBP6_ModerateBS1BS2
The NM_001080416.4(MYBL1):c.765A>G(p.Gln255=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000851 in 1,566,410 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001080416.4 splice_region, synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYBL1 | NM_001080416.4 | c.765A>G | p.Gln255= | splice_region_variant, synonymous_variant | 8/16 | ENST00000522677.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYBL1 | ENST00000522677.8 | c.765A>G | p.Gln255= | splice_region_variant, synonymous_variant | 8/16 | 1 | NM_001080416.4 | A1 | |
MYBL1 | ENST00000524176.2 | c.765A>G | p.Gln255= | splice_region_variant, synonymous_variant | 8/15 | 1 | P4 | ||
MYBL1 | ENST00000517885.5 | c.317+4983A>G | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00478 AC: 726AN: 151968Hom.: 11 Cov.: 32
GnomAD3 exomes AF: 0.00121 AC: 271AN: 223362Hom.: 3 AF XY: 0.000867 AC XY: 106AN XY: 122218
GnomAD4 exome AF: 0.000424 AC: 600AN: 1414324Hom.: 2 Cov.: 24 AF XY: 0.000360 AC XY: 254AN XY: 705020
GnomAD4 genome ? AF: 0.00482 AC: 733AN: 152086Hom.: 12 Cov.: 32 AF XY: 0.00457 AC XY: 340AN XY: 74366
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 19, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at