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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.185

Gnomad4 AMR AF: 0.107

Gnomad4 ASJ AF: 0.132

Gnomad4 EAS AF: 0.000193

Gnomad4 SAS AF: 0.0386

Gnomad4 FIN AF: 0.0541

Gnomad4 NFE AF: 0.0905

Gnomad4 OTH AF: 0.111

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7850212; hg19: chr9-137199164;