6-32707332-T-C

Variant names:

• chr6-32707332-T-C
• rs9275524

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 0.59 in 151,988 control chromosomes in the GnomAD database, including 26,825 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 0.59 (26825 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.27
• Publications: 30 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 = 0.711 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: 0.590 AC: 89593 AN: 151870 Hom.: 26818 Cov.: 31

Gnomad AFR AF: 0.561

Gnomad AMI AF: 0.729

Gnomad AMR AF: 0.643

Gnomad ASJ AF: 0.754

Gnomad EAS AF: 0.731

Gnomad SAS AF: 0.668

Gnomad FIN AF: 0.543

Gnomad MID AF: 0.688

Gnomad NFE AF: 0.574

Gnomad OTH AF: 0.639

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

GnomAD4 genome AF: 0.590 AC: 89648 AN: 151988 Hom.: 26825 Cov.: 31 AF XY: 0.590 AC XY: 43837 AN XY: 74276

African (AFR) AF: 0.561 AC: 23262 AN: 41440

American (AMR) AF: 0.643 AC: 9823 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.754 AC: 2614 AN: 3468

East Asian (EAS) AF: 0.730 AC: 3771 AN: 5166

South Asian (SAS) AF: 0.667 AC: 3214 AN: 4816

European-Finnish (FIN) AF: 0.543 AC: 5726 AN: 10552

Middle Eastern (MID) AF: 0.675 AC: 197 AN: 292

European-Non Finnish (NFE) AF: 0.574 AC: 39027 AN: 67962

Other (OTH) AF: 0.641 AC: 1352 AN: 2110

Alfa AF: 0.592 Hom.: 57386

Bravo AF: 0.599

Asia WGS AF: 0.719 AC: 2501 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.7
DANN	Benign	0.21
PhyloP100		-3.3

Splicing

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

Other links and lift over

dbSNP: rs9275524; hg19: chr6-32675109;