rs7333181

Variant names:

• chr13-111568950-G-A
• rs7333181

Your query was ambiguous. Multiple possible variants found:

• chr13-111568950-G-A
• chr13-111568950-G-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 0.107 in 152,244 control chromosomes in the GnomAD database, including 937 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 0.11 (937 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.33
• Publications: 34 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.126 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: 0.107 AC: 16329 AN: 152126 Hom.: 938 Cov.: 34

Gnomad AFR AF: 0.102

Gnomad AMI AF: 0.117

Gnomad AMR AF: 0.0850

Gnomad ASJ AF: 0.120

Gnomad EAS AF: 0.0359

Gnomad SAS AF: 0.0859

Gnomad FIN AF: 0.0667

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.128

Gnomad OTH AF: 0.114

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

GnomAD4 genome AF: 0.107 AC: 16334 AN: 152244 Hom.: 937 Cov.: 34 AF XY: 0.103 AC XY: 7656 AN XY: 74458

African (AFR) AF: 0.101 AC: 4214 AN: 41526

American (AMR) AF: 0.0848 AC: 1298 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.120 AC: 416 AN: 3470

East Asian (EAS) AF: 0.0357 AC: 185 AN: 5176

South Asian (SAS) AF: 0.0855 AC: 413 AN: 4828

European-Finnish (FIN) AF: 0.0667 AC: 708 AN: 10610

Middle Eastern (MID) AF: 0.112 AC: 33 AN: 294

European-Non Finnish (NFE) AF: 0.128 AC: 8716 AN: 68020

Other (OTH) AF: 0.116 AC: 244 AN: 2110

Alfa AF: 0.122 Hom.: 4558

Bravo AF: 0.108

Asia WGS AF: 0.0700 AC: 243 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.26
DANN	Benign	0.45
PhyloP100		-2.3

Splicing

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

Other links and lift over

dbSNP: rs7333181; hg19: chr13-112221297;