rs9267992

Variant names:

• chr6-32252620-G-A
• rs9267992

Your query was ambiguous. Multiple possible variants found:

• chr6-32252620-G-A
• chr6-32252620-G-C
• chr6-32252620-G-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 0.894 in 152,148 control chromosomes in the GnomAD database, including 60,871 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 0.89 (60871 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.545
• Publications: 40 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.973 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: 0.894 AC: 135861 AN: 152030 Hom.: 60820 Cov.: 31

Gnomad AFR AF: 0.924

Gnomad AMI AF: 0.913

Gnomad AMR AF: 0.905

Gnomad ASJ AF: 0.966

Gnomad EAS AF: 0.996

Gnomad SAS AF: 0.978

Gnomad FIN AF: 0.877

Gnomad MID AF: 0.959

Gnomad NFE AF: 0.856

Gnomad OTH AF: 0.913

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

GnomAD4 genome AF: 0.894 AC: 135971 AN: 152148 Hom.: 60871 Cov.: 31 AF XY: 0.895 AC XY: 66614 AN XY: 74396

African (AFR) AF: 0.924 AC: 38362 AN: 41502

American (AMR) AF: 0.905 AC: 13828 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.966 AC: 3351 AN: 3470

East Asian (EAS) AF: 0.996 AC: 5164 AN: 5186

South Asian (SAS) AF: 0.978 AC: 4708 AN: 4814

European-Finnish (FIN) AF: 0.877 AC: 9281 AN: 10586

Middle Eastern (MID) AF: 0.956 AC: 281 AN: 294

European-Non Finnish (NFE) AF: 0.856 AC: 58236 AN: 67996

Other (OTH) AF: 0.914 AC: 1927 AN: 2108

Alfa AF: 0.878 Hom.: 126400

Bravo AF: 0.897

Asia WGS AF: 0.978 AC: 3402 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	3.1
DANN	Benign	0.48
PhyloP100		-0.55

Splicing

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

Other links and lift over

dbSNP: rs9267992; hg19: chr6-32220397;