rs9655091

Variant names:

• chr7-11886721-G-A
• rs9655091

Your query was ambiguous. Multiple possible variants found:

• chr7-11886721-G-A
• chr7-11886721-G-C
• chr7-11886721-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 0.706 in 151,990 control chromosomes in the GnomAD database, including 38,282 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 0.71 (38282 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.575
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.923 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: 0.706 AC: 107160 AN: 151872 Hom.: 38253 Cov.: 32

Gnomad AFR AF: 0.609

Gnomad AMI AF: 0.840

Gnomad AMR AF: 0.781

Gnomad ASJ AF: 0.791

Gnomad EAS AF: 0.945

Gnomad SAS AF: 0.794

Gnomad FIN AF: 0.789

Gnomad MID AF: 0.696

Gnomad NFE AF: 0.703

Gnomad OTH AF: 0.713

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

GnomAD4 genome AF: 0.706 AC: 107237 AN: 151990 Hom.: 38282 Cov.: 32 AF XY: 0.714 AC XY: 53072 AN XY: 74302

African (AFR) AF: 0.609 AC: 25233 AN: 41410

American (AMR) AF: 0.781 AC: 11927 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.791 AC: 2744 AN: 3470

East Asian (EAS) AF: 0.945 AC: 4891 AN: 5174

South Asian (SAS) AF: 0.794 AC: 3830 AN: 4824

European-Finnish (FIN) AF: 0.789 AC: 8333 AN: 10566

Middle Eastern (MID) AF: 0.697 AC: 205 AN: 294

European-Non Finnish (NFE) AF: 0.703 AC: 47791 AN: 67962

Other (OTH) AF: 0.717 AC: 1517 AN: 2116

Alfa AF: 0.707 Hom.: 146014

Bravo AF: 0.701

Asia WGS AF: 0.854 AC: 2965 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.2
DANN	Benign	0.41
PhyloP100		-0.57

Splicing

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

Other links and lift over

dbSNP: rs9655091; hg19: chr7-11926347;