2-88067874-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198274.4(SMYD1):c.10G>A(p.Gly4Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,648 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198274.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMYD1 | ENST00000419482.7 | c.10G>A | p.Gly4Arg | missense_variant | Exon 1 of 10 | 1 | NM_198274.4 | ENSP00000393453.2 | ||
SMYD1 | ENST00000444564.2 | c.10G>A | p.Gly4Arg | missense_variant | Exon 1 of 9 | 5 | ENSP00000407888.2 | |||
SMYD1 | ENST00000438570.1 | c.10G>A | p.Gly4Arg | missense_variant | Exon 1 of 3 | 2 | ENSP00000387482.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461648Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727118
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.10G>A (p.G4R) alteration is located in exon 1 (coding exon 1) of the SMYD1 gene. This alteration results from a G to A substitution at nucleotide position 10, causing the glycine (G) at amino acid position 4 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
Publications
No publications associated with this variant yet.