6-32695614-A-G

Variant names:

• chr6-32695614-A-G
• rs9275295

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 0.536 in 151,810 control chromosomes in the GnomAD database, including 22,259 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 0.54 (22259 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.883
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.634 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.536 AC: 81302 AN: 151692 Hom.: 22238 Cov.: 30

Gnomad AFR AF: 0.523

Gnomad AMI AF: 0.714

Gnomad AMR AF: 0.634

Gnomad ASJ AF: 0.614

Gnomad EAS AF: 0.653

Gnomad SAS AF: 0.417

Gnomad FIN AF: 0.615

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.502

Gnomad OTH AF: 0.552

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

GnomAD4 genome AF: 0.536 AC: 81379 AN: 151810 Hom.: 22259 Cov.: 30 AF XY: 0.541 AC XY: 40114 AN XY: 74204

African (AFR) AF: 0.523 AC: 21661 AN: 41394

American (AMR) AF: 0.634 AC: 9675 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.614 AC: 2133 AN: 3472

East Asian (EAS) AF: 0.653 AC: 3365 AN: 5156

South Asian (SAS) AF: 0.417 AC: 2007 AN: 4812

European-Finnish (FIN) AF: 0.615 AC: 6484 AN: 10540

Middle Eastern (MID) AF: 0.595 AC: 175 AN: 294

European-Non Finnish (NFE) AF: 0.502 AC: 34062 AN: 67872

Other (OTH) AF: 0.555 AC: 1169 AN: 2108

Alfa AF: 0.410 Hom.: 1238

Bravo AF: 0.543

Asia WGS AF: 0.595 AC: 2075 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.4
DANN	Benign	0.60
PhyloP100		-0.88

Splicing

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

Other links and lift over

dbSNP: rs9275295; hg19: chr6-32663391;