rs1545620
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4_ModerateBS2
The NM_004145.4(MYO9B):c.3031T>A(p.Ser1011Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000589 in 1,528,174 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 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_004145.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO9B | NM_004145.4 | c.3031T>A | p.Ser1011Thr | missense_variant | 21/40 | ENST00000682292.1 | |
MYO9B | NM_001130065.2 | c.3031T>A | p.Ser1011Thr | missense_variant | 21/40 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO9B | ENST00000682292.1 | c.3031T>A | p.Ser1011Thr | missense_variant | 21/40 | NM_004145.4 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151964Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000134 AC: 2AN: 148976Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 79694
GnomAD4 exome AF: 0.00000581 AC: 8AN: 1376210Hom.: 0 Cov.: 46 AF XY: 0.00000445 AC XY: 3AN XY: 674618
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151964Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74198
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at