rs9635759

Variant names:

• chr17-51536424-G-A
• rs9635759

Your query was ambiguous. Multiple possible variants found:

• chr17-51536424-G-A
• chr17-51536424-G-C

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 0.257 in 152,096 control chromosomes in the GnomAD database, including 5,585 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 0.26 (5585 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.55
• Publications: 35 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.373 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: 0.257 AC: 39112 AN: 151978 Hom.: 5567 Cov.: 32

Gnomad AFR AF: 0.126

Gnomad AMI AF: 0.233

Gnomad AMR AF: 0.293

Gnomad ASJ AF: 0.326

Gnomad EAS AF: 0.386

Gnomad SAS AF: 0.282

Gnomad FIN AF: 0.310

Gnomad MID AF: 0.282

Gnomad NFE AF: 0.306

Gnomad OTH AF: 0.258

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

GnomAD4 genome AF: 0.257 AC: 39152 AN: 152096 Hom.: 5585 Cov.: 32 AF XY: 0.260 AC XY: 19314 AN XY: 74344

African (AFR) AF: 0.126 AC: 5227 AN: 41504

American (AMR) AF: 0.293 AC: 4481 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.326 AC: 1130 AN: 3468

East Asian (EAS) AF: 0.387 AC: 1997 AN: 5162

South Asian (SAS) AF: 0.284 AC: 1369 AN: 4826

European-Finnish (FIN) AF: 0.310 AC: 3271 AN: 10558

Middle Eastern (MID) AF: 0.286 AC: 84 AN: 294

European-Non Finnish (NFE) AF: 0.306 AC: 20824 AN: 67978

Other (OTH) AF: 0.264 AC: 557 AN: 2112

Alfa AF: 0.294 Hom.: 27509

Bravo AF: 0.249

Asia WGS AF: 0.380 AC: 1323 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.93
DANN	Benign	0.45
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs9635759; hg19: chr17-49613785;