9-133663916-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001134707.2(SARDH):āc.2730C>Gā(p.Asn910Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,614,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001134707.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARDH | ENST00000439388.6 | c.2730C>G | p.Asn910Lys | missense_variant | Exon 21 of 21 | 2 | NM_001134707.2 | ENSP00000403084.1 | ||
SARDH | ENST00000371872.8 | c.2730C>G | p.Asn910Lys | missense_variant | Exon 21 of 21 | 1 | ENSP00000360938.4 | |||
SARDH | ENST00000371868.5 | c.1080C>G | p.Asn360Lys | missense_variant | Exon 9 of 9 | 2 | ENSP00000360934.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461864Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727228
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2730C>G (p.N910K) alteration is located in exon 21 (coding exon 20) of the SARDH gene. This alteration results from a C to G substitution at nucleotide position 2730, causing the asparagine (N) at amino acid position 910 to be replaced by a lysine (K). 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