rs2785198

Variant names:

• chr11-35071482-G-A
• rs2785198

Your query was ambiguous. Multiple possible variants found:

• chr11-35071482-G-A
• chr11-35071482-G-C

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 0.663 in 152,128 control chromosomes in the GnomAD database, including 34,646 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 0.66 (34646 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.22

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.832 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: 0.663 AC: 100794 AN: 152010 Hom.: 34600 Cov.: 33

Gnomad AFR AF: 0.839

Gnomad AMI AF: 0.567

Gnomad AMR AF: 0.665

Gnomad ASJ AF: 0.638

Gnomad EAS AF: 0.791

Gnomad SAS AF: 0.783

Gnomad FIN AF: 0.540

Gnomad MID AF: 0.718

Gnomad NFE AF: 0.558

Gnomad OTH AF: 0.672

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

GnomAD4 genome AF: 0.663 AC: 100893 AN: 152128 Hom.: 34646 Cov.: 33 AF XY: 0.667 AC XY: 49573 AN XY: 74358

Gnomad4 AFR AF: 0.839

Gnomad4 AMR AF: 0.665

Gnomad4 ASJ AF: 0.638

Gnomad4 EAS AF: 0.790

Gnomad4 SAS AF: 0.781

Gnomad4 FIN AF: 0.540

Gnomad4 NFE AF: 0.558

Gnomad4 OTH AF: 0.674

Alfa AF: 0.614 Hom.: 3668

Bravo AF: 0.677

Asia WGS AF: 0.773 AC: 2688 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	6.1
DANN	Benign	0.45

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2785198; hg19: chr11-35093029;