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. The variant received -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
• Publications: 14 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.482 AC: 19973 AN: 41444

American (AMR) AF: 0.367 AC: 5608 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.497 AC: 1727 AN: 3472

East Asian (EAS) AF: 0.371 AC: 1915 AN: 5160

South Asian (SAS) AF: 0.580 AC: 2787 AN: 4808

European-Finnish (FIN) AF: 0.345 AC: 3646 AN: 10564

Middle Eastern (MID) AF: 0.565 AC: 166 AN: 294

European-Non Finnish (NFE) AF: 0.462 AC: 31399 AN: 67970

Other (OTH) AF: 0.473 AC: 998 AN: 2108

Alfa AF: 0.429 Hom.: 2283

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
PhyloP100		-0.50

Splicing

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

Other links and lift over

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