19-17101960-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_004145.4(MYO9B):c.243C>T(p.Asn81Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000478 in 1,613,378 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_004145.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000190 AC: 29AN: 152258Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000994 AC: 246AN: 247418Hom.: 3 AF XY: 0.000773 AC XY: 104AN XY: 134594
GnomAD4 exome AF: 0.000509 AC: 743AN: 1461002Hom.: 3 Cov.: 31 AF XY: 0.000436 AC XY: 317AN XY: 726850
GnomAD4 genome AF: 0.000190 AC: 29AN: 152376Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74516
ClinVar
Submissions by phenotype
MYO9B-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at