rs11150911

Variant names:

• chr18-75786573-A-C
• rs11150911

Your query was ambiguous. Multiple possible variants found:

• chr18-75786573-A-C
• chr18-75786573-A-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 0.554 in 152,058 control chromosomes in the GnomAD database, including 26,829 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 0.55 (26829 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.222
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.706 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: 0.554 AC: 84196 AN: 151940 Hom.: 26837 Cov.: 32

Gnomad AFR AF: 0.215

Gnomad AMI AF: 0.697

Gnomad AMR AF: 0.567

Gnomad ASJ AF: 0.548

Gnomad EAS AF: 0.701

Gnomad SAS AF: 0.713

Gnomad FIN AF: 0.688

Gnomad MID AF: 0.687

Gnomad NFE AF: 0.711

Gnomad OTH AF: 0.573

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

GnomAD4 genome AF: 0.554 AC: 84195 AN: 152058 Hom.: 26829 Cov.: 32 AF XY: 0.557 AC XY: 41401 AN XY: 74352

African (AFR) AF: 0.215 AC: 8925 AN: 41510

American (AMR) AF: 0.567 AC: 8658 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.548 AC: 1898 AN: 3464

East Asian (EAS) AF: 0.700 AC: 3610 AN: 5154

South Asian (SAS) AF: 0.713 AC: 3427 AN: 4804

European-Finnish (FIN) AF: 0.688 AC: 7273 AN: 10570

Middle Eastern (MID) AF: 0.680 AC: 200 AN: 294

European-Non Finnish (NFE) AF: 0.711 AC: 48359 AN: 67972

Other (OTH) AF: 0.575 AC: 1209 AN: 2104

Alfa AF: 0.678 Hom.: 28772

Bravo AF: 0.526

Asia WGS AF: 0.644 AC: 2240 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.9
DANN	Benign	0.40
PhyloP100		-0.22

Splicing

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

Other links and lift over

dbSNP: rs11150911; hg19: chr18-73498528;