rs2071521

Variant names:

• chr11-116827132-G-A
• rs2071521

Your query was ambiguous. Multiple possible variants found:

• chr11-116827132-G-A
• chr11-116827132-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 0.527 in 152,106 control chromosomes in the GnomAD database, including 22,501 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 0.53 (22501 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0320

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.624 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: 0.527 AC: 80092 AN: 151988 Hom.: 22503 Cov.: 33

Gnomad AFR AF: 0.316

Gnomad AMI AF: 0.678

Gnomad AMR AF: 0.566

Gnomad ASJ AF: 0.551

Gnomad EAS AF: 0.614

Gnomad SAS AF: 0.488

Gnomad FIN AF: 0.587

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.629

Gnomad OTH AF: 0.548

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

GnomAD4 genome AF: 0.527 AC: 80112 AN: 152106 Hom.: 22501 Cov.: 33 AF XY: 0.522 AC XY: 38796 AN XY: 74362

Gnomad4 AFR AF: 0.316

Gnomad4 AMR AF: 0.566

Gnomad4 ASJ AF: 0.551

Gnomad4 EAS AF: 0.615

Gnomad4 SAS AF: 0.487

Gnomad4 FIN AF: 0.587

Gnomad4 NFE AF: 0.629

Gnomad4 OTH AF: 0.548

Alfa AF: 0.614 Hom.: 27017

Bravo AF: 0.525

Asia WGS AF: 0.537 AC: 1869 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.5
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2071521; hg19: chr11-116697848;