rs9353527

Variant names:

• chr6-88170320-G-A
• rs9353527

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.603 in 151,764 control chromosomes in the GnomAD database, including 28,339 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 0.60 (28339 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.172

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.756 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: 0.603 AC: 91497 AN: 151648 Hom.: 28328 Cov.: 30

Gnomad AFR AF: 0.447

Gnomad AMI AF: 0.738

Gnomad AMR AF: 0.588

Gnomad ASJ AF: 0.610

Gnomad EAS AF: 0.775

Gnomad SAS AF: 0.621

Gnomad FIN AF: 0.628

Gnomad MID AF: 0.706

Gnomad NFE AF: 0.680

Gnomad OTH AF: 0.634

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

GnomAD4 genome AF: 0.603 AC: 91548 AN: 151764 Hom.: 28339 Cov.: 30 AF XY: 0.605 AC XY: 44866 AN XY: 74152

Gnomad4 AFR AF: 0.447

Gnomad4 AMR AF: 0.588

Gnomad4 ASJ AF: 0.610

Gnomad4 EAS AF: 0.776

Gnomad4 SAS AF: 0.622

Gnomad4 FIN AF: 0.628

Gnomad4 NFE AF: 0.680

Gnomad4 OTH AF: 0.632

Alfa AF: 0.631 Hom.: 3808

Bravo AF: 0.595

Asia WGS AF: 0.647 AC: 2247 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.29
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9353527; hg19: chr6-88880039;