rs10409962
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014442.3(SIGLEC8):āc.508T>Cā(p.Ser170Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0977 in 1,606,140 control chromosomes in the GnomAD database, including 14,870 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_014442.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIGLEC8 | NM_014442.3 | c.508T>C | p.Ser170Pro | missense_variant | 2/7 | ENST00000321424.7 | |
SIGLEC8 | XM_011526734.3 | c.475T>C | p.Ser159Pro | missense_variant | 2/7 | ||
SIGLEC8 | NM_001363548.1 | c.454+248T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIGLEC8 | ENST00000321424.7 | c.508T>C | p.Ser170Pro | missense_variant | 2/7 | 1 | NM_014442.3 | P1 | |
SIGLEC8 | ENST00000340550.5 | c.454+248T>C | intron_variant | 1 | |||||
SIGLEC8 | ENST00000430817.5 | c.454+248T>C | intron_variant | 2 | |||||
SIGLEC8 | ENST00000597352.1 | n.124T>C | non_coding_transcript_exon_variant | 1/3 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.204 AC: 31026AN: 151874Hom.: 5868 Cov.: 31
GnomAD3 exomes AF: 0.116 AC: 28041AN: 241486Hom.: 3016 AF XY: 0.107 AC XY: 13949AN XY: 130378
GnomAD4 exome AF: 0.0865 AC: 125773AN: 1454148Hom.: 8980 Cov.: 32 AF XY: 0.0843 AC XY: 60944AN XY: 723080
GnomAD4 genome ? AF: 0.205 AC: 31107AN: 151992Hom.: 5890 Cov.: 31 AF XY: 0.204 AC XY: 15141AN XY: 74282
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at