9-133671557-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001134707.2(SARDH):c.2304C>A(p.Ile768Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000535 in 1,606,616 control chromosomes in the GnomAD database, including 1 homozygotes. 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_001134707.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2304C>A | p.Ile768Ile | synonymous_variant | Exon 18 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2304C>A | p.Ile768Ile | synonymous_variant | Exon 18 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.588C>A | p.Ile196Ile | synonymous_variant | Exon 6 of 9 | 2 | ENSP00000360934.1 |
Frequencies
GnomAD3 genomes AF: 0.0000462 AC: 7AN: 151576Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000799 AC: 19AN: 237862Hom.: 0 AF XY: 0.000132 AC XY: 17AN XY: 129016
GnomAD4 exome AF: 0.0000543 AC: 79AN: 1454922Hom.: 1 Cov.: 51 AF XY: 0.0000816 AC XY: 59AN XY: 723138
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151694Hom.: 0 Cov.: 30 AF XY: 0.0000809 AC XY: 6AN XY: 74126
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at