rs17085505

Variant names:

• chr18-72076229-A-C
• rs17085505

Your query was ambiguous. Multiple possible variants found:

• chr18-72076229-A-C
• chr18-72076229-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 0.0388 in 152,206 control chromosomes in the GnomAD database, including 193 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 0.039 (193 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.67
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0757 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: 0.0386 AC: 5874 AN: 152088 Hom.: 191 Cov.: 32

Gnomad AFR AF: 0.0778

Gnomad AMI AF: 0.0242

Gnomad AMR AF: 0.0449

Gnomad ASJ AF: 0.00346

Gnomad EAS AF: 0.0373

Gnomad SAS AF: 0.00539

Gnomad FIN AF: 0.0305

Gnomad MID AF: 0.00633

Gnomad NFE AF: 0.0195

Gnomad OTH AF: 0.0282

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

GnomAD4 genome AF: 0.0388 AC: 5898 AN: 152206 Hom.: 193 Cov.: 32 AF XY: 0.0385 AC XY: 2867 AN XY: 74422

African (AFR) AF: 0.0780 AC: 3237 AN: 41526

American (AMR) AF: 0.0453 AC: 691 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.00346 AC: 12 AN: 3472

East Asian (EAS) AF: 0.0374 AC: 194 AN: 5186

South Asian (SAS) AF: 0.00560 AC: 27 AN: 4824

European-Finnish (FIN) AF: 0.0305 AC: 323 AN: 10602

Middle Eastern (MID) AF: 0.00680 AC: 2 AN: 294

European-Non Finnish (NFE) AF: 0.0195 AC: 1329 AN: 68012

Other (OTH) AF: 0.0289 AC: 61 AN: 2112

Alfa AF: 0.0207 Hom.: 27

Bravo AF: 0.0422

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.052
DANN	Benign	0.42
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs17085505; hg19: chr18-69743464;