rs11836636

Variant names:

• chr12-74669330-A-G
• rs11836636

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;