1-245863845-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001167740.2(SMYD3):āc.855A>Cā(p.Glu285Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,614,178 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001167740.2 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 |
---|---|---|---|---|---|---|---|
SMYD3 | NM_001167740.2 | c.855A>C | p.Glu285Asp | missense_variant | 9/12 | ENST00000490107.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMYD3 | ENST00000490107.6 | c.855A>C | p.Glu285Asp | missense_variant | 9/12 | 1 | NM_001167740.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000955 AC: 24AN: 251434Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135884
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461842Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 727218
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152336Hom.: 0 Cov.: 33 AF XY: 0.0000268 AC XY: 2AN XY: 74494
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at