12-113398588-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006843.3(SDS):āc.352G>Cā(p.Glu118Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000815 in 1,594,442 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_006843.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SDS | NM_006843.3 | c.352G>C | p.Glu118Gln | missense_variant | 5/8 | ENST00000257549.9 | NP_006834.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SDS | ENST00000257549.9 | c.352G>C | p.Glu118Gln | missense_variant | 5/8 | 2 | NM_006843.3 | ENSP00000257549 | P1 | |
SDS | ENST00000547342.1 | c.634G>C | p.Glu212Gln | missense_variant | 6/6 | 5 | ENSP00000449061 | |||
SDS | ENST00000552280.5 | c.153+968G>C | intron_variant | 3 | ENSP00000449833 | |||||
SDS | ENST00000553112.5 | n.473G>C | non_coding_transcript_exon_variant | 5/6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000834 AC: 2AN: 239788Hom.: 0 AF XY: 0.00000770 AC XY: 1AN XY: 129852
GnomAD4 exome AF: 0.00000624 AC: 9AN: 1442286Hom.: 0 Cov.: 32 AF XY: 0.00000419 AC XY: 3AN XY: 715226
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 21, 2022 | The c.352G>C (p.E118Q) alteration is located in exon 5 (coding exon 4) of the SDS gene. This alteration results from a G to C substitution at nucleotide position 352, causing the glutamic acid (E) at amino acid position 118 to be replaced by a glutamine (Q). 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