20-1578547-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006065.5(SIRPB1):c.224G>A(p.Arg75Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000391 in 1,583,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006065.5 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 | UniProt |
---|---|---|---|---|---|---|---|
SIRPB1 | NM_006065.5 | c.224G>A | p.Arg75Gln | missense_variant | 2/6 | ENST00000381605.9 | |
SIRPB1 | NM_001083910.4 | c.224G>A | p.Arg75Gln | missense_variant | 2/4 | ||
SIRPB1 | NM_001330639.2 | c.221G>A | p.Arg74Gln | missense_variant | 2/4 | ||
SIRPB1 | XM_005260641.4 | c.221G>A | p.Arg74Gln | missense_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIRPB1 | ENST00000381605.9 | c.224G>A | p.Arg75Gln | missense_variant | 2/6 | 1 | NM_006065.5 |
Frequencies
GnomAD3 genomes AF: 0.0000408 AC: 6AN: 146880Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000444 AC: 11AN: 247826Hom.: 0 AF XY: 0.0000747 AC XY: 10AN XY: 133946
GnomAD4 exome AF: 0.0000390 AC: 56AN: 1436806Hom.: 0 Cov.: 33 AF XY: 0.0000518 AC XY: 37AN XY: 714958
GnomAD4 genome AF: 0.0000408 AC: 6AN: 146880Hom.: 0 Cov.: 29 AF XY: 0.0000701 AC XY: 5AN XY: 71342
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 02, 2021 | The c.224G>A (p.R75Q) alteration is located in exon 2 (coding exon 2) of the SIRPB1 gene. This alteration results from a G to A substitution at nucleotide position 224, causing the arginine (R) at amino acid position 75 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