rs9357152

Variant names:

• chr6-32697183-A-G
• rs9357152

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 0.242 in 152,124 control chromosomes in the GnomAD database, including 4,694 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 0.24 (4694 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.801
• Publications: 74 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 = 0.341 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: 0.242 AC: 36766 AN: 152004 Hom.: 4696 Cov.: 32

Gnomad AFR AF: 0.233

Gnomad AMI AF: 0.313

Gnomad AMR AF: 0.237

Gnomad ASJ AF: 0.290

Gnomad EAS AF: 0.355

Gnomad SAS AF: 0.207

Gnomad FIN AF: 0.149

Gnomad MID AF: 0.389

Gnomad NFE AF: 0.252

Gnomad OTH AF: 0.260

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

GnomAD4 genome AF: 0.242 AC: 36784 AN: 152124 Hom.: 4694 Cov.: 32 AF XY: 0.236 AC XY: 17583 AN XY: 74360

African (AFR) AF: 0.233 AC: 9648 AN: 41478

American (AMR) AF: 0.237 AC: 3616 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.290 AC: 1004 AN: 3468

East Asian (EAS) AF: 0.355 AC: 1835 AN: 5172

South Asian (SAS) AF: 0.205 AC: 988 AN: 4820

European-Finnish (FIN) AF: 0.149 AC: 1580 AN: 10578

Middle Eastern (MID) AF: 0.388 AC: 114 AN: 294

European-Non Finnish (NFE) AF: 0.252 AC: 17154 AN: 68008

Other (OTH) AF: 0.265 AC: 560 AN: 2112

Alfa AF: 0.248 Hom.: 19757

Bravo AF: 0.248

Asia WGS AF: 0.319 AC: 1109 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	7.6
DANN	Benign	0.61
PhyloP100		-0.80

Splicing

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

Other links and lift over

dbSNP: rs9357152; hg19: chr6-32664960;