NM_001134707.2:c.2583C>T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001134707.2(SARDH):c.2583C>T(p.Ile861Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000686 in 1,603,462 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_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.2583C>T | p.Ile861Ile | synonymous_variant | Exon 20 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2583C>T | p.Ile861Ile | synonymous_variant | Exon 20 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.933C>T | p.Ile311Ile | synonymous_variant | Exon 8 of 9 | 2 | ENSP00000360934.1 | |||
SARDH | ENST00000469828.1 | n.341C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000261 AC: 6AN: 230210Hom.: 0 AF XY: 0.0000482 AC XY: 6AN XY: 124580
GnomAD4 exome AF: 0.00000551 AC: 8AN: 1451226Hom.: 0 Cov.: 32 AF XY: 0.00000694 AC XY: 5AN XY: 720862
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at