rs11775199

Variant names:

• chr8-128268703-A-G
• rs11775199

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 0.323 in 151,982 control chromosomes in the GnomAD database, including 8,866 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 0.32 (8866 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.369
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.396 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: 0.323 AC: 49044 AN: 151866 Hom.: 8869 Cov.: 32

Gnomad AFR AF: 0.169

Gnomad AMI AF: 0.346

Gnomad AMR AF: 0.373

Gnomad ASJ AF: 0.418

Gnomad EAS AF: 0.121

Gnomad SAS AF: 0.287

Gnomad FIN AF: 0.437

Gnomad MID AF: 0.307

Gnomad NFE AF: 0.400

Gnomad OTH AF: 0.333

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

GnomAD4 genome AF: 0.323 AC: 49060 AN: 151982 Hom.: 8866 Cov.: 32 AF XY: 0.322 AC XY: 23946 AN XY: 74294

African (AFR) AF: 0.169 AC: 7024 AN: 41452

American (AMR) AF: 0.373 AC: 5692 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.418 AC: 1451 AN: 3468

East Asian (EAS) AF: 0.121 AC: 626 AN: 5172

South Asian (SAS) AF: 0.288 AC: 1387 AN: 4818

European-Finnish (FIN) AF: 0.437 AC: 4603 AN: 10540

Middle Eastern (MID) AF: 0.291 AC: 85 AN: 292

European-Non Finnish (NFE) AF: 0.400 AC: 27178 AN: 67950

Other (OTH) AF: 0.331 AC: 699 AN: 2112

Alfa AF: 0.357 Hom.: 13592

Bravo AF: 0.308

Asia WGS AF: 0.187 AC: 651 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.78
DANN	Benign	0.79
PhyloP100		-0.37

Splicing

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

Other links and lift over

dbSNP: rs11775199; hg19: chr8-129280949;