9-133663924-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001134707.2(SARDH):c.2722G>A(p.Asp908Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000105 in 1,614,144 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001134707.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2722G>A | p.Asp908Asn | missense_variant | Exon 21 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2722G>A | p.Asp908Asn | missense_variant | Exon 21 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.1072G>A | p.Asp358Asn | missense_variant | Exon 9 of 9 | 2 | ENSP00000360934.1 | |||
SARDH | ENST00000469828.1 | n.*48G>A | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152160Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251442Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135894
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461866Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727232
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152278Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74464
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2722G>A (p.D908N) alteration is located in exon 21 (coding exon 20) of the SARDH gene. This alteration results from a G to A substitution at nucleotide position 2722, causing the aspartic acid (D) at amino acid position 908 to be replaced by an asparagine (N). 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