2-170214397-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_138995.5(MYO3B):c.340G>T(p.Val114Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0005 in 1,614,106 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138995.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000552 AC: 84AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000734 AC: 183AN: 249454Hom.: 1 AF XY: 0.000776 AC XY: 105AN XY: 135320
GnomAD4 exome AF: 0.000495 AC: 723AN: 1461830Hom.: 1 Cov.: 30 AF XY: 0.000520 AC XY: 378AN XY: 727220
GnomAD4 genome AF: 0.000552 AC: 84AN: 152276Hom.: 0 Cov.: 33 AF XY: 0.000564 AC XY: 42AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.340G>T (p.V114F) alteration is located in exon 4 (coding exon 4) of the MYO3B gene. This alteration results from a G to T substitution at nucleotide position 340, causing the valine (V) at amino acid position 114 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at