rs10406069
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001771.4(CD22):c.2234G>A(p.Gly745Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.183 in 1,609,258 control chromosomes in the GnomAD database, including 29,083 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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_001771.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD22 | NM_001771.4 | c.2234G>A | p.Gly745Asp | missense_variant | 12/14 | ENST00000085219.10 | |
MIR5196 | NR_049828.1 | n.115G>A | non_coding_transcript_exon_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD22 | ENST00000085219.10 | c.2234G>A | p.Gly745Asp | missense_variant | 12/14 | 1 | NM_001771.4 | P2 | |
MIR5196 | ENST00000578146.1 | n.115G>A | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.155 AC: 23478AN: 151720Hom.: 2180 Cov.: 30
GnomAD3 exomes AF: 0.165 AC: 41386AN: 251022Hom.: 3900 AF XY: 0.166 AC XY: 22501AN XY: 135702
GnomAD4 exome AF: 0.186 AC: 271741AN: 1457422Hom.: 26904 Cov.: 31 AF XY: 0.184 AC XY: 133250AN XY: 725332
GnomAD4 genome ? AF: 0.155 AC: 23467AN: 151836Hom.: 2179 Cov.: 30 AF XY: 0.153 AC XY: 11382AN XY: 74184
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at