2-88084423-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198274.4(SMYD1):c.245C>T(p.Ala82Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A82T) has been classified 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMYD1 | ENST00000419482.7 | c.245C>T | p.Ala82Val | missense_variant | Exon 2 of 10 | 1 | NM_198274.4 | ENSP00000393453.2 | ||
SMYD1 | ENST00000444564.2 | c.245C>T | p.Ala82Val | missense_variant | Exon 2 of 9 | 5 | ENSP00000407888.2 | |||
SMYD1 | ENST00000438570.1 | c.245C>T | p.Ala82Val | missense_variant | Exon 2 of 3 | 2 | ENSP00000387482.1 | |||
SMYD1 | ENST00000468008.1 | n.275C>T | non_coding_transcript_exon_variant | Exon 2 of 4 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1455890Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 723664
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.245C>T (p.A82V) alteration is located in exon 2 (coding exon 2) of the SMYD1 gene. This alteration results from a C to T substitution at nucleotide position 245, causing the alanine (A) at amino acid position 82 to be replaced by a valine (V). 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.