NM_052928.3:c.2200G>A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_052928.3(SMYD4):c.2200G>A(p.Gly734Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000465 in 1,614,172 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052928.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMYD4 | NM_052928.3 | c.2200G>A | p.Gly734Arg | missense_variant | Exon 10 of 11 | ENST00000305513.12 | NP_443160.2 | |
SMYD4 | XM_024450560.2 | c.2200G>A | p.Gly734Arg | missense_variant | Exon 10 of 11 | XP_024306328.1 | ||
SMYD4 | XM_047435290.1 | c.2200G>A | p.Gly734Arg | missense_variant | Exon 10 of 10 | XP_047291246.1 | ||
SMYD4 | XM_047435291.1 | c.1888G>A | p.Gly630Arg | missense_variant | Exon 9 of 10 | XP_047291247.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMYD4 | ENST00000305513.12 | c.2200G>A | p.Gly734Arg | missense_variant | Exon 10 of 11 | 1 | NM_052928.3 | ENSP00000304360.7 | ||
SMYD4 | ENST00000491788.1 | c.1612G>A | p.Gly538Arg | missense_variant | Exon 6 of 6 | 2 | ENSP00000460921.1 | |||
SMYD4 | ENST00000476292.1 | n.*14G>A | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152172Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251450Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135908
GnomAD4 exome AF: 0.0000472 AC: 69AN: 1461882Hom.: 0 Cov.: 29 AF XY: 0.0000454 AC XY: 33AN XY: 727244
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152290Hom.: 0 Cov.: 30 AF XY: 0.0000269 AC XY: 2AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2200G>A (p.G734R) alteration is located in exon 10 (coding exon 9) of the SMYD4 gene. This alteration results from a G to A substitution at nucleotide position 2200, causing the glycine (G) at amino acid position 734 to be replaced by an arginine (R). 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