rs7850212

Variant names:

• chr9-134307318-C-A
• rs7850212

Your query was ambiguous. Multiple possible variants found:

• chr9-134307318-C-A
• chr9-134307318-C-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 0.112 in 152,176 control chromosomes in the GnomAD database, including 1,178 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 (1178 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.208
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.181 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: 0.112 AC: 17021 AN: 152052 Hom.: 1178 Cov.: 32

Gnomad AFR AF: 0.185

Gnomad AMI AF: 0.0824

Gnomad AMR AF: 0.107

Gnomad ASJ AF: 0.132

Gnomad EAS AF: 0.000578

Gnomad SAS AF: 0.0386

Gnomad FIN AF: 0.0541

Gnomad MID AF: 0.152

Gnomad NFE AF: 0.0905

Gnomad OTH AF: 0.112

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

GnomAD4 genome AF: 0.112 AC: 17023 AN: 152176 Hom.: 1178 Cov.: 32 AF XY: 0.107 AC XY: 7988 AN XY: 74406

African (AFR) AF: 0.185 AC: 7664 AN: 41506

American (AMR) AF: 0.107 AC: 1638 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.132 AC: 457 AN: 3468

East Asian (EAS) AF: 0.000193 AC: 1 AN: 5174

South Asian (SAS) AF: 0.0386 AC: 186 AN: 4824

European-Finnish (FIN) AF: 0.0541 AC: 574 AN: 10608

Middle Eastern (MID) AF: 0.133 AC: 39 AN: 294

European-Non Finnish (NFE) AF: 0.0905 AC: 6155 AN: 67994

Other (OTH) AF: 0.111 AC: 234 AN: 2112

Alfa AF: 0.0646 Hom.: 86

Bravo AF: 0.120

Asia WGS AF: 0.0250 AC: 85 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	1.3
DANN	Benign	0.38
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs7850212; hg19: chr9-137199164;