rs1884393

Variant names:

• chr20-1475434-G-A
• rs1884393
• NM_001122962.2:c.*733C>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000359801.8(SIRPB2):​c.*733C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.103 in 152,280 control chromosomes in the GnomAD database, including 943 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.10 (943 hom., cov: 32)
  • Exomes 𝑓: 0.11 (0 hom.)
• Consequence: SIRPB2 ENST00000359801.8 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0870
• Publications: 5 publications found

Genes affected

SIRPB2 (HGNC:16247): (signal regulatory protein beta 2) Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.175 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000359801.8. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SIRPB2	NM_001122962.2	MANE Select	c.*733C>T		3_prime_UTR	Exon 5 of 5	NP_001116434.1
	SIRPB2	NM_001134836.2		c.*733C>T		3_prime_UTR	Exon 5 of 5	NP_001128308.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SIRPB2	ENST00000359801.8	TSL:2 MANE Select	c.*733C>T		3_prime_UTR	Exon 5 of 5	ENSP00000352849.3
	SIRPB2	ENST00000481731.5	TSL:5	n.860-1564C>T		intron	N/A	ENSP00000432656.1
	SIRPB2	ENST00000486775.5	TSL:5	n.860-1564C>T		intron	N/A	ENSP00000435045.1

Frequencies

GnomAD3 genomes AF: 0.103 AC: 15602 AN: 152124 Hom.: 943 Cov.: 32

Gnomad AFR AF: 0.0661

Gnomad AMI AF: 0.101

Gnomad AMR AF: 0.180

Gnomad ASJ AF: 0.0890

Gnomad EAS AF: 0.00539

Gnomad SAS AF: 0.0751

Gnomad FIN AF: 0.107

Gnomad MID AF: 0.0728

Gnomad NFE AF: 0.117

Gnomad OTH AF: 0.104

GnomAD4 exome AF: 0.105 AC: 4 AN: 38 Hom.: 0 Cov.: 0 AF XY: 0.0385 AC XY: 1 AN XY: 26

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AF: 0.00 AC: 0 AN: 2

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 2

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AF: 0.125 AC: 4 AN: 32

Other (OTH) AF: 0.00 AC: 0 AN: 2

GnomAD4 genome AF: 0.103 AC: 15609 AN: 152242 Hom.: 943 Cov.: 32 AF XY: 0.102 AC XY: 7622 AN XY: 74438

African (AFR) AF: 0.0660 AC: 2742 AN: 41544

American (AMR) AF: 0.180 AC: 2755 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.0890 AC: 309 AN: 3472

East Asian (EAS) AF: 0.00560 AC: 29 AN: 5182

South Asian (SAS) AF: 0.0747 AC: 361 AN: 4832

European-Finnish (FIN) AF: 0.107 AC: 1133 AN: 10594

Middle Eastern (MID) AF: 0.0748 AC: 22 AN: 294

European-Non Finnish (NFE) AF: 0.117 AC: 7944 AN: 68016

Other (OTH) AF: 0.105 AC: 222 AN: 2108

Alfa AF: 0.117 Hom.: 1993

Bravo AF: 0.109

Asia WGS AF: 0.0510 AC: 178 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	5.4
DANN	Benign	0.68
PhyloP100		0.087
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs1884393; hg19: chr20-1456079;