rs9357529

Variant names:

• chr6-47349696-C-A
• rs9357529

Your query was ambiguous. Multiple possible variants found:

• chr6-47349696-C-A
• chr6-47349696-C-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 0.0871 in 152,014 control chromosomes in the GnomAD database, including 1,681 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 0.087 (1681 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.174
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.582 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: 0.0870 AC: 13215 AN: 151896 Hom.: 1672 Cov.: 32

Gnomad AFR AF: 0.0435

Gnomad AMI AF: 0.00877

Gnomad AMR AF: 0.233

Gnomad ASJ AF: 0.0605

Gnomad EAS AF: 0.599

Gnomad SAS AF: 0.148

Gnomad FIN AF: 0.0554

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0450

Gnomad OTH AF: 0.0863

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

GnomAD4 genome AF: 0.0871 AC: 13243 AN: 152014 Hom.: 1681 Cov.: 32 AF XY: 0.0939 AC XY: 6980 AN XY: 74312

African (AFR) AF: 0.0434 AC: 1799 AN: 41444

American (AMR) AF: 0.234 AC: 3571 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.0605 AC: 210 AN: 3470

East Asian (EAS) AF: 0.600 AC: 3101 AN: 5170

South Asian (SAS) AF: 0.148 AC: 712 AN: 4812

European-Finnish (FIN) AF: 0.0554 AC: 584 AN: 10548

Middle Eastern (MID) AF: 0.0340 AC: 10 AN: 294

European-Non Finnish (NFE) AF: 0.0450 AC: 3061 AN: 67996

Other (OTH) AF: 0.0887 AC: 187 AN: 2108

Alfa AF: 0.0527 Hom.: 191

Bravo AF: 0.104

Asia WGS AF: 0.338 AC: 1173 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	9.2
DANN	Benign	0.72
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs9357529; hg19: chr6-47317432;