rs2170436

Variant names:

• chr11-13211191-G-A
• rs2170436

Your query was ambiguous. Multiple possible variants found:

• chr11-13211191-G-A
• chr11-13211191-G-C
• chr11-13211191-G-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 0.606 in 152,004 control chromosomes in the GnomAD database, including 30,106 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 0.61 (30106 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.02

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.802 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: 0.607 AC: 92169 AN: 151886 Hom.: 30107 Cov.: 32

Gnomad AFR AF: 0.358

Gnomad AMI AF: 0.627

Gnomad AMR AF: 0.610

Gnomad ASJ AF: 0.634

Gnomad EAS AF: 0.822

Gnomad SAS AF: 0.741

Gnomad FIN AF: 0.681

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.719

Gnomad OTH AF: 0.605

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

GnomAD4 genome AF: 0.606 AC: 92183 AN: 152004 Hom.: 30106 Cov.: 32 AF XY: 0.609 AC XY: 45244 AN XY: 74292

Gnomad4 AFR AF: 0.357

Gnomad4 AMR AF: 0.610

Gnomad4 ASJ AF: 0.634

Gnomad4 EAS AF: 0.822

Gnomad4 SAS AF: 0.740

Gnomad4 FIN AF: 0.681

Gnomad4 NFE AF: 0.719

Gnomad4 OTH AF: 0.610

Alfa AF: 0.692 Hom.: 49578

Bravo AF: 0.586

Asia WGS AF: 0.745 AC: 2580 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	9.3
DANN	Benign	0.14

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2170436; hg19: chr11-13232738;