rs9694294

Variant names:

• chr8-11493212-C-G
• rs9694294
• ENST00000645242.1:n.274+6045C>G

Your query was ambiguous. Multiple possible variants found:

• chr8-11493212-C-G
• chr8-11493212-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000645242.1(BLK):​n.274+6045C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.819 in 152,172 control chromosomes in the GnomAD database, including 51,190 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 0.82 (51190 hom., cov: 33)
• Consequence: BLK ENST00000645242.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.232

Genes affected

BLK (HGNC:1057): (BLK proto-oncogene, Src family tyrosine kinase) This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.85 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BLK	ENST00000645242.1	n.274+6045C>G		intron_variant	Intron 1 of 11
BLK	ENST00000696154.2	n.274+6045C>G		intron_variant	Intron 1 of 11

Frequencies

GnomAD3 genomes AF: 0.819 AC: 124521 AN: 152054 Hom.: 51150 Cov.: 33

Gnomad AFR AF: 0.822

Gnomad AMI AF: 0.674

Gnomad AMR AF: 0.862

Gnomad ASJ AF: 0.830

Gnomad EAS AF: 0.735

Gnomad SAS AF: 0.794

Gnomad FIN AF: 0.693

Gnomad MID AF: 0.842

Gnomad NFE AF: 0.837

Gnomad OTH AF: 0.814

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.819 AC: 124618 AN: 152172 Hom.: 51190 Cov.: 33 AF XY: 0.812 AC XY: 60417 AN XY: 74390

Gnomad4 AFR AF: 0.821

Gnomad4 AMR AF: 0.862

Gnomad4 ASJ AF: 0.830

Gnomad4 EAS AF: 0.735

Gnomad4 SAS AF: 0.794

Gnomad4 FIN AF: 0.693

Gnomad4 NFE AF: 0.837

Gnomad4 OTH AF: 0.817

Alfa AF: 0.838 Hom.: 6643

Bravo AF: 0.832

Asia WGS AF: 0.792 AC: 2755 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.7
DANN	Benign	0.47

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9694294; hg19: chr8-11350721;