chr6-32605694-A-G

Variant names:

• chr6-32605694-A-G
• rs9270965

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 0.689 in 151,700 control chromosomes in the GnomAD database, including 36,304 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 0.69 (36304 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.04
• Publications: 26 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.748 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.689 AC: 104514 AN: 151582 Hom.: 36275 Cov.: 28

Gnomad AFR AF: 0.755

Gnomad AMI AF: 0.596

Gnomad AMR AF: 0.629

Gnomad ASJ AF: 0.617

Gnomad EAS AF: 0.741

Gnomad SAS AF: 0.673

Gnomad FIN AF: 0.606

Gnomad MID AF: 0.766

Gnomad NFE AF: 0.677

Gnomad OTH AF: 0.715

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

GnomAD4 genome AF: 0.689 AC: 104590 AN: 151700 Hom.: 36304 Cov.: 28 AF XY: 0.684 AC XY: 50727 AN XY: 74114

African (AFR) AF: 0.755 AC: 31199 AN: 41316

American (AMR) AF: 0.628 AC: 9583 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.617 AC: 2139 AN: 3466

East Asian (EAS) AF: 0.741 AC: 3827 AN: 5162

South Asian (SAS) AF: 0.672 AC: 3226 AN: 4800

European-Finnish (FIN) AF: 0.606 AC: 6359 AN: 10492

Middle Eastern (MID) AF: 0.755 AC: 222 AN: 294

European-Non Finnish (NFE) AF: 0.677 AC: 45993 AN: 67902

Other (OTH) AF: 0.711 AC: 1498 AN: 2106

Alfa AF: 0.680 Hom.: 5353

Bravo AF: 0.696

Asia WGS AF: 0.665 AC: 2315 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.19
DANN	Benign	0.21
PhyloP100		-2.0

Splicing

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

Other links and lift over

dbSNP: rs9270965; hg19: chr6-32573471;