rs165611

Variant names:

• chr22-16837260-T-C
• rs165611

Your query was ambiguous. Multiple possible variants found:

• chr22-16837260-T-C
• chr22-16837260-T-G

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 0.506 in 152,048 control chromosomes in the GnomAD database, including 20,306 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 (20306 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.47
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.5).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.604 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: 0.506 AC: 76943 AN: 151928 Hom.: 20306 Cov.: 32

Gnomad AFR AF: 0.363

Gnomad AMI AF: 0.570

Gnomad AMR AF: 0.562

Gnomad ASJ AF: 0.421

Gnomad EAS AF: 0.623

Gnomad SAS AF: 0.513

Gnomad FIN AF: 0.633

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.556

Gnomad OTH AF: 0.514

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

GnomAD4 genome AF: 0.506 AC: 76960 AN: 152048 Hom.: 20306 Cov.: 32 AF XY: 0.511 AC XY: 37935 AN XY: 74304

African (AFR) AF: 0.362 AC: 15026 AN: 41480

American (AMR) AF: 0.562 AC: 8589 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.421 AC: 1459 AN: 3466

East Asian (EAS) AF: 0.622 AC: 3213 AN: 5164

South Asian (SAS) AF: 0.512 AC: 2463 AN: 4806

European-Finnish (FIN) AF: 0.633 AC: 6682 AN: 10564

Middle Eastern (MID) AF: 0.486 AC: 143 AN: 294

European-Non Finnish (NFE) AF: 0.556 AC: 37776 AN: 67972

Other (OTH) AF: 0.516 AC: 1090 AN: 2112

Alfa AF: 0.530 Hom.: 36404

Bravo AF: 0.496

Asia WGS AF: 0.566 AC: 1967 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.50
CADD	Benign	6.1
DANN	Benign	0.92
PhyloP100		2.5

Splicing

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

Other links and lift over

dbSNP: rs165611; hg19: chr22-17318150;