2-170335435-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138995.5(MYO3B):c.800A>T(p.Asn267Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000558 in 1,612,292 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N267S) has been classified as Likely benign.
Frequency
Consequence
NM_138995.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000243 AC: 6AN: 247048Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 133988
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1459946Hom.: 0 Cov.: 30 AF XY: 0.00000551 AC XY: 4AN XY: 726172
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152346Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74500
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at