rs9270986

Variant names:

• chr6-32606283-A-C
• rs9270986

Your query was ambiguous. Multiple possible variants found:

• chr6-32606283-A-C
• chr6-32606283-A-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 0.845 in 151,836 control chromosomes in the GnomAD database, including 54,306 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 0.85 (54306 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.119
• Publications: 73 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.869 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: 0.845 AC: 128237 AN: 151718 Hom.: 54262 Cov.: 30

Gnomad AFR AF: 0.838

Gnomad AMI AF: 0.909

Gnomad AMR AF: 0.882

Gnomad ASJ AF: 0.917

Gnomad EAS AF: 0.820

Gnomad SAS AF: 0.766

Gnomad FIN AF: 0.860

Gnomad MID AF: 0.901

Gnomad NFE AF: 0.841

Gnomad OTH AF: 0.876

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

GnomAD4 genome AF: 0.845 AC: 128333 AN: 151836 Hom.: 54306 Cov.: 30 AF XY: 0.844 AC XY: 62641 AN XY: 74210

African (AFR) AF: 0.838 AC: 34673 AN: 41390

American (AMR) AF: 0.882 AC: 13459 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.917 AC: 3179 AN: 3466

East Asian (EAS) AF: 0.820 AC: 4239 AN: 5168

South Asian (SAS) AF: 0.767 AC: 3685 AN: 4804

European-Finnish (FIN) AF: 0.860 AC: 9063 AN: 10544

Middle Eastern (MID) AF: 0.897 AC: 262 AN: 292

European-Non Finnish (NFE) AF: 0.841 AC: 57117 AN: 67896

Other (OTH) AF: 0.871 AC: 1829 AN: 2100

Alfa AF: 0.844 Hom.: 201029

Bravo AF: 0.850

Asia WGS AF: 0.746 AC: 2598 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.1
DANN	Benign	0.58
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs9270986; hg19: chr6-32574060;