17-10303286-C-T
Variant summary
Our verdict is Benign. The variant received -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS2
The NM_003802.3(MYH13):c.5577G>A(p.Glu1859Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000929 in 1,614,088 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.
Frequency
Consequence
NM_003802.3 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH13 | NM_003802.3 | c.5577G>A | p.Glu1859Glu | synonymous_variant | Exon 39 of 41 | ENST00000252172.9 | NP_003793.2 | |
LOC107985004 | XR_001752791.3 | n.95+11373C>T | intron_variant | Intron 1 of 4 | ||||
LOC107985004 | XR_007065617.1 | n.95+11373C>T | intron_variant | Intron 1 of 4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152098Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000761 AC: 19AN: 249758 AF XY: 0.0000886 show subpopulations
GnomAD4 exome AF: 0.0000937 AC: 137AN: 1461872Hom.: 0 Cov.: 31 AF XY: 0.0000949 AC XY: 69AN XY: 727238 show subpopulations
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74410 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at