rs9656967

Variant names:

• chr8-127522342-T-A
• rs9656967

Your query was ambiguous. Multiple possible variants found:

• chr8-127522342-T-A
• chr8-127522342-T-C
• chr8-127522342-T-G

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 0.839 in 152,198 control chromosomes in the GnomAD database, including 53,822 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 0.84 (53822 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0970
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.874 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: 0.839 AC: 127663 AN: 152080 Hom.: 53799 Cov.: 33

Gnomad AFR AF: 0.774

Gnomad AMI AF: 0.902

Gnomad AMR AF: 0.855

Gnomad ASJ AF: 0.924

Gnomad EAS AF: 0.767

Gnomad SAS AF: 0.832

Gnomad FIN AF: 0.806

Gnomad MID AF: 0.946

Gnomad NFE AF: 0.880

Gnomad OTH AF: 0.870

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

GnomAD4 genome AF: 0.839 AC: 127730 AN: 152198 Hom.: 53822 Cov.: 33 AF XY: 0.837 AC XY: 62289 AN XY: 74408

African (AFR) AF: 0.774 AC: 32126 AN: 41510

American (AMR) AF: 0.855 AC: 13068 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.924 AC: 3209 AN: 3472

East Asian (EAS) AF: 0.767 AC: 3971 AN: 5178

South Asian (SAS) AF: 0.833 AC: 4021 AN: 4828

European-Finnish (FIN) AF: 0.806 AC: 8525 AN: 10580

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

European-Non Finnish (NFE) AF: 0.880 AC: 59881 AN: 68020

Other (OTH) AF: 0.864 AC: 1825 AN: 2112

Alfa AF: 0.828 Hom.: 2993

Bravo AF: 0.837

Asia WGS AF: 0.743 AC: 2588 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.8
DANN	Benign	0.76
PhyloP100		-0.097

Splicing

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

Other links and lift over

dbSNP: rs9656967; hg19: chr8-128534587;