rs11160818

Variant names:

• chr14-104722885-A-G
• rs11160818

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 0.886 in 152,226 control chromosomes in the GnomAD database, including 59,987 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 0.89 (59987 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.18
• Publications: 5 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 (AFR) allele frequency at 95% confidence interval = 0.943 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: 0.886 AC: 134766 AN: 152108 Hom.: 59933 Cov.: 33

Gnomad AFR AF: 0.951

Gnomad AMI AF: 0.796

Gnomad AMR AF: 0.902

Gnomad ASJ AF: 0.912

Gnomad EAS AF: 0.942

Gnomad SAS AF: 0.824

Gnomad FIN AF: 0.823

Gnomad MID AF: 0.915

Gnomad NFE AF: 0.852

Gnomad OTH AF: 0.903

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

GnomAD4 genome AF: 0.886 AC: 134877 AN: 152226 Hom.: 59987 Cov.: 33 AF XY: 0.884 AC XY: 65822 AN XY: 74418

African (AFR) AF: 0.951 AC: 39499 AN: 41540

American (AMR) AF: 0.902 AC: 13804 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.912 AC: 3165 AN: 3470

East Asian (EAS) AF: 0.942 AC: 4864 AN: 5164

South Asian (SAS) AF: 0.822 AC: 3967 AN: 4824

European-Finnish (FIN) AF: 0.823 AC: 8731 AN: 10608

Middle Eastern (MID) AF: 0.915 AC: 269 AN: 294

European-Non Finnish (NFE) AF: 0.852 AC: 57942 AN: 68004

Other (OTH) AF: 0.904 AC: 1910 AN: 2112

Alfa AF: 0.870 Hom.: 71452

Bravo AF: 0.896

Asia WGS AF: 0.913 AC: 3174 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	0.15
DANN	Benign	0.69
PhyloP100		-4.2

Splicing

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

Other links and lift over

dbSNP: rs11160818; hg19: chr14-105189222;