rs617135

Variant names:

• chr11-60169284-A-G
• rs617135

Your query was ambiguous. Multiple possible variants found:

• chr11-60169284-A-G
• chr11-60169284-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 0.451 in 152,024 control chromosomes in the GnomAD database, including 15,683 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 0.45 (15683 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.502

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.562 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: 0.451 AC: 68543 AN: 151906 Hom.: 15655 Cov.: 32

Gnomad AFR AF: 0.481

Gnomad AMI AF: 0.435

Gnomad AMR AF: 0.367

Gnomad ASJ AF: 0.497

Gnomad EAS AF: 0.371

Gnomad SAS AF: 0.579

Gnomad FIN AF: 0.345

Gnomad MID AF: 0.566

Gnomad NFE AF: 0.462

Gnomad OTH AF: 0.475

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

GnomAD4 genome AF: 0.451 AC: 68615 AN: 152024 Hom.: 15683 Cov.: 32 AF XY: 0.447 AC XY: 33187 AN XY: 74302

Gnomad4 AFR AF: 0.482

Gnomad4 AMR AF: 0.367

Gnomad4 ASJ AF: 0.497

Gnomad4 EAS AF: 0.371

Gnomad4 SAS AF: 0.580

Gnomad4 FIN AF: 0.345

Gnomad4 NFE AF: 0.462

Gnomad4 OTH AF: 0.473

Alfa AF: 0.450 Hom.: 1381

Bravo AF: 0.450

Asia WGS AF: 0.478 AC: 1664 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	7.0
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs617135; hg19: chr11-59936757; COSMIC: COSV60619685;