9-133666831-G-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001134707.2(SARDH):c.2535C>T(p.Asn845Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000461 in 1,610,722 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001134707.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2535C>T | p.Asn845Asn | synonymous_variant | Exon 20 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2535C>T | p.Asn845Asn | synonymous_variant | Exon 20 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.885C>T | p.Asn295Asn | synonymous_variant | Exon 8 of 9 | 2 | ENSP00000360934.1 | |||
SARDH | ENST00000469828.1 | n.293C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000525 AC: 80AN: 152254Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000481 AC: 117AN: 243054Hom.: 0 AF XY: 0.000479 AC XY: 63AN XY: 131632
GnomAD4 exome AF: 0.000454 AC: 662AN: 1458350Hom.: 2 Cov.: 32 AF XY: 0.000452 AC XY: 328AN XY: 725096
GnomAD4 genome AF: 0.000525 AC: 80AN: 152372Hom.: 1 Cov.: 32 AF XY: 0.000497 AC XY: 37AN XY: 74516
ClinVar
Submissions by phenotype
SARDH-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
SARDH: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at