chr9-133671557-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_001134707.2(SARDH):c.2304C>T(p.Ile768Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.465 in 1,605,978 control chromosomes in the GnomAD database, including 178,125 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001134707.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2304C>T | p.Ile768Ile | synonymous_variant | Exon 18 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2304C>T | p.Ile768Ile | synonymous_variant | Exon 18 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.588C>T | p.Ile196Ile | synonymous_variant | Exon 6 of 9 | 2 | ENSP00000360934.1 |
Frequencies
GnomAD3 genomes AF: 0.506 AC: 76688AN: 151488Hom.: 19909 Cov.: 30
GnomAD3 exomes AF: 0.504 AC: 119866AN: 237862Hom.: 31688 AF XY: 0.491 AC XY: 63407AN XY: 129016
GnomAD4 exome AF: 0.461 AC: 669871AN: 1454372Hom.: 158208 Cov.: 51 AF XY: 0.459 AC XY: 332096AN XY: 722810
GnomAD4 genome AF: 0.506 AC: 76741AN: 151606Hom.: 19917 Cov.: 30 AF XY: 0.508 AC XY: 37647AN XY: 74070
ClinVar
Submissions by phenotype
SARDH-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at