17-1781364-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_052928.3(SMYD4):c.2337C>T(p.Asp779Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000465 in 1,614,002 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_052928.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMYD4 | NM_052928.3 | c.2337C>T | p.Asp779Asp | synonymous_variant | Exon 11 of 11 | ENST00000305513.12 | NP_443160.2 | |
SMYD4 | XM_024450560.2 | c.2337C>T | p.Asp779Asp | synonymous_variant | Exon 11 of 11 | XP_024306328.1 | ||
SMYD4 | XM_047435291.1 | c.2025C>T | p.Asp675Asp | synonymous_variant | Exon 10 of 10 | XP_047291247.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152076Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000795 AC: 20AN: 251456Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135912
GnomAD4 exome AF: 0.0000465 AC: 68AN: 1461808Hom.: 0 Cov.: 30 AF XY: 0.0000426 AC XY: 31AN XY: 727194
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152194Hom.: 0 Cov.: 31 AF XY: 0.0000538 AC XY: 4AN XY: 74406
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at