chr8-66595680-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001080416.4(MYBL1):c.590G>A(p.Gly197Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00304 in 1,583,904 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001080416.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYBL1 | NM_001080416.4 | c.590G>A | p.Gly197Glu | missense_variant | 6/16 | ENST00000522677.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYBL1 | ENST00000522677.8 | c.590G>A | p.Gly197Glu | missense_variant | 6/16 | 1 | NM_001080416.4 | A1 | |
MYBL1 | ENST00000524176.2 | c.590G>A | p.Gly197Glu | missense_variant | 6/15 | 1 | P4 | ||
MYBL1 | ENST00000517885.5 | c.317+1845G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00233 AC: 355AN: 152098Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00220 AC: 452AN: 205792Hom.: 2 AF XY: 0.00207 AC XY: 228AN XY: 110280
GnomAD4 exome AF: 0.00311 AC: 4454AN: 1431688Hom.: 12 Cov.: 29 AF XY: 0.00310 AC XY: 2199AN XY: 709550
GnomAD4 genome ? AF: 0.00233 AC: 355AN: 152216Hom.: 1 Cov.: 32 AF XY: 0.00202 AC XY: 150AN XY: 74428
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jan 01, 2023 | MYBL1: BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at