rs11836636

chr12-74669330-A-G

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 0.183 in 152,010 control chromosomes in the GnomAD database, including 2,762 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 0.18 (2762 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.583

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 (AFR) allele frequency at 95% confidence interval = 0.242 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.183 AC: 27779 AN: 151892 Hom.: 2756 Cov.: 32

Gnomad AFR AF: 0.246

Gnomad AMI AF: 0.0504

Gnomad AMR AF: 0.142

Gnomad ASJ AF: 0.184

Gnomad EAS AF: 0.0242

Gnomad SAS AF: 0.164

Gnomad FIN AF: 0.125

Gnomad MID AF: 0.215

Gnomad NFE AF: 0.178

Gnomad OTH AF: 0.186

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

GnomAD4 genome AF: 0.183 AC: 27817 AN: 152010 Hom.: 2762 Cov.: 32 AF XY: 0.177 AC XY: 13147 AN XY: 74330

Gnomad4 AFR AF: 0.246

Gnomad4 AMR AF: 0.142

Gnomad4 ASJ AF: 0.184

Gnomad4 EAS AF: 0.0243

Gnomad4 SAS AF: 0.165

Gnomad4 FIN AF: 0.125

Gnomad4 NFE AF: 0.178

Gnomad4 OTH AF: 0.192

Alfa AF: 0.179 Hom.: 1505

Bravo AF: 0.185

Asia WGS AF: 0.112 AC: 387 AN: 3458

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
Cadd	Benign	6.8
Dann	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11836636; hg19: chr12-75063110;