9-133666783-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001134707.2(SARDH):āc.2583C>Gā(p.Ile861Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000179 in 1,603,462 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001134707.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2583C>G | p.Ile861Met | missense_variant | Exon 20 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2583C>G | p.Ile861Met | missense_variant | Exon 20 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.933C>G | p.Ile311Met | missense_variant | Exon 8 of 9 | 2 | ENSP00000360934.1 | |||
SARDH | ENST00000469828.1 | n.341C>G | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000143 AC: 33AN: 230210Hom.: 0 AF XY: 0.000153 AC XY: 19AN XY: 124580
GnomAD4 exome AF: 0.000185 AC: 268AN: 1451226Hom.: 0 Cov.: 32 AF XY: 0.000179 AC XY: 129AN XY: 720862
GnomAD4 genome AF: 0.000125 AC: 19AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2583C>G (p.I861M) alteration is located in exon 20 (coding exon 19) of the SARDH gene. This alteration results from a C to G substitution at nucleotide position 2583, causing the isoleucine (I) at amino acid position 861 to be replaced by a methionine (M). 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