rs9267955

Variant names:

• chr6-32245373-A-G
• rs9267955

Your query was ambiguous. Multiple possible variants found:

• chr6-32245373-A-G
• chr6-32245373-A-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 0.89 in 152,324 control chromosomes in the GnomAD database, including 60,387 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 (60387 hom., cov: 35)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.148

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• 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: 0.890 AC: 135421 AN: 152206 Hom.: 60339 Cov.: 35

Gnomad AFR AF: 0.910

Gnomad AMI AF: 0.913

Gnomad AMR AF: 0.904

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: 0.910

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

GnomAD4 genome AF: 0.890 AC: 135528 AN: 152324 Hom.: 60387 Cov.: 35 AF XY: 0.892 AC XY: 66428 AN XY: 74488

Gnomad4 AFR AF: 0.910

Gnomad4 AMR AF: 0.904

Gnomad4 ASJ AF: 0.966

Gnomad4 EAS AF: 0.996

Gnomad4 SAS AF: 0.979

Gnomad4 FIN AF: 0.877

Gnomad4 NFE AF: 0.856

Gnomad4 OTH AF: 0.911

Alfa AF: 0.864 Hom.: 14340

Bravo AF: 0.893

Asia WGS AF: 0.977 AC: 3397 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	5.1
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9267955; hg19: chr6-32213150;