rs9655091

Positions:

• chr7-11886721-G-A
• chr7-11886721-G-C
• chr7-11886721-G-T

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.609

Gnomad4 AMR AF: 0.781

Gnomad4 ASJ AF: 0.791

Gnomad4 EAS AF: 0.945

Gnomad4 SAS AF: 0.794

Gnomad4 FIN AF: 0.789

Gnomad4 NFE AF: 0.703

Gnomad4 OTH AF: 0.717

Alfa AF: 0.709 Hom.: 61770

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9655091; hg19: chr7-11926347;