9-133670624-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001134707.2(SARDH):c.2455G>A(p.Ala819Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00281 in 1,579,404 control chromosomes in the GnomAD database, including 133 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001134707.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SARDH | NM_001134707.2 | c.2455G>A | p.Ala819Thr | missense_variant | 19/21 | ENST00000439388.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2455G>A | p.Ala819Thr | missense_variant | 19/21 | 2 | NM_001134707.2 | P1 | |
SARDH | ENST00000371872.8 | c.2455G>A | p.Ala819Thr | missense_variant | 19/21 | 1 | P1 | ||
SARDH | ENST00000371868.5 | c.739G>A | p.Ala247Thr | missense_variant | 7/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0141 AC: 2150AN: 152196Hom.: 70 Cov.: 33
GnomAD3 exomes AF: 0.00374 AC: 704AN: 187998Hom.: 23 AF XY: 0.00276 AC XY: 281AN XY: 101844
GnomAD4 exome AF: 0.00160 AC: 2287AN: 1427090Hom.: 63 Cov.: 32 AF XY: 0.00147 AC XY: 1041AN XY: 706752
GnomAD4 genome ? AF: 0.0141 AC: 2150AN: 152314Hom.: 70 Cov.: 33 AF XY: 0.0129 AC XY: 963AN XY: 74482
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at