17-36499115-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001163735.2(MYO19):c.2423C>T(p.Ala808Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000197 in 1,610,316 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001163735.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO19 | NM_001163735.2 | c.2423C>T | p.Ala808Val | missense_variant | 24/26 | ENST00000614623.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO19 | ENST00000614623.5 | c.2423C>T | p.Ala808Val | missense_variant | 24/26 | 2 | NM_001163735.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000158 AC: 24AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000115 AC: 28AN: 244246Hom.: 0 AF XY: 0.000113 AC XY: 15AN XY: 132358
GnomAD4 exome AF: 0.000202 AC: 294AN: 1458162Hom.: 0 Cov.: 30 AF XY: 0.000190 AC XY: 138AN XY: 724932
GnomAD4 genome ? AF: 0.000158 AC: 24AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 22, 2021 | The c.2423C>T (p.A808V) alteration is located in exon 24 (coding exon 22) of the MYO19 gene. This alteration results from a C to T substitution at nucleotide position 2423, causing the alanine (A) at amino acid position 808 to be replaced by a valine (V). 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