rs11150911

Positions:

• chr18-75786573-A-C
• chr18-75786573-A-T

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 0.554 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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

Gnomad4 AFR AF: 0.215

Gnomad4 AMR AF: 0.567

Gnomad4 ASJ AF: 0.548

Gnomad4 EAS AF: 0.700

Gnomad4 SAS AF: 0.713

Gnomad4 FIN AF: 0.688

Gnomad4 NFE AF: 0.711

Gnomad4 OTH AF: 0.575

Alfa AF: 0.671 Hom.: 19594

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11150911; hg19: chr18-73498528;