rs11036627

Variant names:

• chr11-41903164-C-A
• rs11036627

Your query was ambiguous. Multiple possible variants found:

• chr11-41903164-C-A
• chr11-41903164-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0802 in 152,054 control chromosomes in the GnomAD database, including 587 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 0.080 (587 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.700
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.192 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: 0.0802 AC: 12181 AN: 151938 Hom.: 586 Cov.: 32

Gnomad AFR AF: 0.105

Gnomad AMI AF: 0.0529

Gnomad AMR AF: 0.0528

Gnomad ASJ AF: 0.0556

Gnomad EAS AF: 0.0637

Gnomad SAS AF: 0.203

Gnomad FIN AF: 0.0534

Gnomad MID AF: 0.0886

Gnomad NFE AF: 0.0698

Gnomad OTH AF: 0.0707

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

GnomAD4 genome AF: 0.0802 AC: 12201 AN: 152054 Hom.: 587 Cov.: 32 AF XY: 0.0817 AC XY: 6075 AN XY: 74344

African (AFR) AF: 0.105 AC: 4364 AN: 41454

American (AMR) AF: 0.0527 AC: 805 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.0556 AC: 193 AN: 3472

East Asian (EAS) AF: 0.0634 AC: 328 AN: 5170

South Asian (SAS) AF: 0.203 AC: 978 AN: 4822

European-Finnish (FIN) AF: 0.0534 AC: 565 AN: 10576

Middle Eastern (MID) AF: 0.0884 AC: 26 AN: 294

European-Non Finnish (NFE) AF: 0.0698 AC: 4746 AN: 67966

Other (OTH) AF: 0.0700 AC: 148 AN: 2114

Alfa AF: 0.0707 Hom.: 614

Bravo AF: 0.0775

Asia WGS AF: 0.117 AC: 405 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.3
DANN	Benign	0.45
PhyloP100		-0.70

Splicing

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

Other links and lift over

dbSNP: rs11036627; hg19: chr11-41924714;