rs6601327

Variant names:

• chr8-9538022-G-A
• rs6601327

Your query was ambiguous. Multiple possible variants found:

• chr8-9538022-G-A
• chr8-9538022-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 0.561 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
• Publications: 22 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.504 AC: 20836 AN: 41374

American (AMR) AF: 0.521 AC: 7946 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.716 AC: 2484 AN: 3470

East Asian (EAS) AF: 0.353 AC: 1810 AN: 5130

South Asian (SAS) AF: 0.552 AC: 2654 AN: 4810

European-Finnish (FIN) AF: 0.496 AC: 5233 AN: 10554

Middle Eastern (MID) AF: 0.682 AC: 199 AN: 292

European-Non Finnish (NFE) AF: 0.623 AC: 42311 AN: 67932

Other (OTH) AF: 0.587 AC: 1239 AN: 2110

Alfa AF: 0.607 Hom.: 91092

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
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs6601327; hg19: chr8-9395532;