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. The variant received -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
• Publications: 10 publications found

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]

BLK Gene-Disease associations (from GenCC):

• maturity-onset diabetes of the young

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• systemic lupus erythematosus

  Inheritance: Unknown Classification: SUPPORTIVE Submitted by: Orphanet
• maturity-onset diabetes of the young type 11

  Inheritance: AD, Unknown Classification: LIMITED Submitted by: Labcorp Genetics (formerly Invitae), Laboratory for Molecular Medicine
• monogenic diabetes

  Inheritance: AD Classification: NO_KNOWN Submitted by: ClinGen

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000645242.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BLK	ENST00000645242.1		n.274+6045C>G		intron	N/A
	BLK	ENST00000696154.2		n.274+6045C>G		intron	N/A

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

African (AFR) AF: 0.821 AC: 34116 AN: 41536

American (AMR) AF: 0.862 AC: 13191 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.830 AC: 2882 AN: 3472

East Asian (EAS) AF: 0.735 AC: 3804 AN: 5176

South Asian (SAS) AF: 0.794 AC: 3826 AN: 4820

European-Finnish (FIN) AF: 0.693 AC: 7318 AN: 10556

Middle Eastern (MID) AF: 0.844 AC: 248 AN: 294

European-Non Finnish (NFE) AF: 0.837 AC: 56892 AN: 67998

Other (OTH) AF: 0.817 AC: 1726 AN: 2112

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.7
DANN	Benign	0.47
PhyloP100		0.23

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs9694294;

hg19: chr8-11350721;