rs2785193

Variant names:

• chr11-35073888-A-C
• rs2785193

Your query was ambiguous. Multiple possible variants found:

• chr11-35073888-A-C
• chr11-35073888-A-G
• chr11-35073888-A-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 0.512 in 152,102 control chromosomes in the GnomAD database, including 20,839 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 0.51 (20839 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.28

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.733 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: 0.512 AC: 77830 AN: 151984 Hom.: 20833 Cov.: 33

Gnomad AFR AF: 0.357

Gnomad AMI AF: 0.568

Gnomad AMR AF: 0.601

Gnomad ASJ AF: 0.610

Gnomad EAS AF: 0.754

Gnomad SAS AF: 0.690

Gnomad FIN AF: 0.514

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.548

Gnomad OTH AF: 0.543

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

GnomAD4 genome AF: 0.512 AC: 77848 AN: 152102 Hom.: 20839 Cov.: 33 AF XY: 0.517 AC XY: 38448 AN XY: 74352

Gnomad4 AFR AF: 0.356

Gnomad4 AMR AF: 0.602

Gnomad4 ASJ AF: 0.610

Gnomad4 EAS AF: 0.753

Gnomad4 SAS AF: 0.689

Gnomad4 FIN AF: 0.514

Gnomad4 NFE AF: 0.548

Gnomad4 OTH AF: 0.546

Alfa AF: 0.520 Hom.: 2623

Bravo AF: 0.509

Asia WGS AF: 0.687 AC: 2389 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.8
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2785193; hg19: chr11-35095435;