rs333785

Variant names:

• chr11-37059123-T-G
• rs333785

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 151,596 control chromosomes in the GnomAD database, including 8,067 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 (8067 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.572
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.353 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: 48871 AN: 151478 Hom.: 8059 Cov.: 32

Gnomad AFR AF: 0.291

Gnomad AMI AF: 0.422

Gnomad AMR AF: 0.325

Gnomad ASJ AF: 0.363

Gnomad EAS AF: 0.197

Gnomad SAS AF: 0.254

Gnomad FIN AF: 0.291

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.357

Gnomad OTH AF: 0.340

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

GnomAD4 genome AF: 0.323 AC: 48905 AN: 151596 Hom.: 8067 Cov.: 32 AF XY: 0.317 AC XY: 23511 AN XY: 74066

African (AFR) AF: 0.291 AC: 12053 AN: 41386

American (AMR) AF: 0.324 AC: 4929 AN: 15200

Ashkenazi Jewish (ASJ) AF: 0.363 AC: 1257 AN: 3464

East Asian (EAS) AF: 0.197 AC: 1007 AN: 5120

South Asian (SAS) AF: 0.254 AC: 1224 AN: 4820

European-Finnish (FIN) AF: 0.291 AC: 3074 AN: 10558

Middle Eastern (MID) AF: 0.361 AC: 106 AN: 294

European-Non Finnish (NFE) AF: 0.357 AC: 24150 AN: 67736

Other (OTH) AF: 0.342 AC: 721 AN: 2108

Alfa AF: 0.342 Hom.: 1538

Bravo AF: 0.324

Asia WGS AF: 0.245 AC: 855 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.8
DANN	Benign	0.56
PhyloP100		0.57

Splicing

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

Other links and lift over

dbSNP: rs333785; hg19: chr11-37080673;