rs6601327

Positions:

• chr8-9538022-G-A
• chr8-9538022-G-C

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 0.561 in 151,830 control chromosomes in the GnomAD database, including 24,360 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 0.56 (24360 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.129

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.618 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.561 AC: 85120 AN: 151714 Hom.: 24354 Cov.: 30

Gnomad AFR AF: 0.504

Gnomad AMI AF: 0.481

Gnomad AMR AF: 0.521

Gnomad ASJ AF: 0.716

Gnomad EAS AF: 0.353

Gnomad SAS AF: 0.551

Gnomad FIN AF: 0.496

Gnomad MID AF: 0.685

Gnomad NFE AF: 0.623

Gnomad OTH AF: 0.591

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

GnomAD4 genome AF: 0.561 AC: 85150 AN: 151830 Hom.: 24360 Cov.: 30 AF XY: 0.554 AC XY: 41119 AN XY: 74202

Gnomad4 AFR AF: 0.504

Gnomad4 AMR AF: 0.521

Gnomad4 ASJ AF: 0.716

Gnomad4 EAS AF: 0.353

Gnomad4 SAS AF: 0.552

Gnomad4 FIN AF: 0.496

Gnomad4 NFE AF: 0.623

Gnomad4 OTH AF: 0.587

Alfa AF: 0.614 Hom.: 58495

Bravo AF: 0.555

Asia WGS AF: 0.456 AC: 1587 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.1
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6601327; hg19: chr8-9395532;