7-44964961-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033054.3(MYO1G):c.2510G>A(p.Arg837Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000406 in 1,600,654 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033054.3 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: 0.0000263 AC: 4AN: 152252Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000243 AC: 6AN: 246440Hom.: 0 AF XY: 0.0000374 AC XY: 5AN XY: 133766
GnomAD4 exome AF: 0.0000421 AC: 61AN: 1448284Hom.: 0 Cov.: 32 AF XY: 0.0000432 AC XY: 31AN XY: 717570
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152370Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74512
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2510G>A (p.R837Q) alteration is located in exon 18 (coding exon 18) of the MYO1G gene. This alteration results from a G to A substitution at nucleotide position 2510, causing the arginine (R) at amino acid position 837 to be replaced by a glutamine (Q). 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