8-11488036-G-C

Position:

• chr8-11488036-G-C

Variant summary

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

The variant allele was found at a frequency of 0.332 in 151,946 control chromosomes in the GnomAD database, including 9,245 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 0.33 (9245 hom., cov: 33)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.252

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.714 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.11488036G>C		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
BLK	ENST00000645242.1	n.274+869G>C		intron_variant
BLK	ENST00000696154.2	n.274+869G>C		intron_variant

Frequencies

GnomAD3 genomes AF: 0.332 AC: 50446 AN: 151828 Hom.: 9225 Cov.: 33

Gnomad AFR AF: 0.323

Gnomad AMI AF: 0.310

Gnomad AMR AF: 0.472

Gnomad ASJ AF: 0.210

Gnomad EAS AF: 0.733

Gnomad SAS AF: 0.421

Gnomad FIN AF: 0.298

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.282

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.332 AC: 50503 AN: 151946 Hom.: 9245 Cov.: 33 AF XY: 0.339 AC XY: 25214 AN XY: 74270

Gnomad4 AFR AF: 0.323

Gnomad4 AMR AF: 0.472

Gnomad4 ASJ AF: 0.210

Gnomad4 EAS AF: 0.734

Gnomad4 SAS AF: 0.419

Gnomad4 FIN AF: 0.298

Gnomad4 NFE AF: 0.282

Gnomad4 OTH AF: 0.330

Alfa AF: 0.295 Hom.: 838

Bravo AF: 0.351

Asia WGS AF: 0.591 AC: 2052 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.3
DANN	Benign	0.25

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4840565; hg19: chr8-11345545;