rs9276644

Variant names:

• chr6-32777266-T-C
• rs9276644

Your query was ambiguous. Multiple possible variants found:

• chr6-32777266-T-C
• chr6-32777266-T-G

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 0.336 in 151,836 control chromosomes in the GnomAD database, including 8,751 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 0.34 (8751 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.187
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.345 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: 0.337 AC: 51068 AN: 151718 Hom.: 8747 Cov.: 30

Gnomad AFR AF: 0.350

Gnomad AMI AF: 0.270

Gnomad AMR AF: 0.287

Gnomad ASJ AF: 0.365

Gnomad EAS AF: 0.315

Gnomad SAS AF: 0.315

Gnomad FIN AF: 0.310

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.346

Gnomad OTH AF: 0.344

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

GnomAD4 genome AF: 0.336 AC: 51086 AN: 151836 Hom.: 8751 Cov.: 30 AF XY: 0.334 AC XY: 24761 AN XY: 74204

African (AFR) AF: 0.349 AC: 14452 AN: 41370

American (AMR) AF: 0.287 AC: 4378 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.365 AC: 1263 AN: 3460

East Asian (EAS) AF: 0.315 AC: 1628 AN: 5166

South Asian (SAS) AF: 0.314 AC: 1509 AN: 4810

European-Finnish (FIN) AF: 0.310 AC: 3273 AN: 10544

Middle Eastern (MID) AF: 0.463 AC: 136 AN: 294

European-Non Finnish (NFE) AF: 0.346 AC: 23477 AN: 67924

Other (OTH) AF: 0.344 AC: 724 AN: 2106

Alfa AF: 0.342 Hom.: 33998

Bravo AF: 0.334

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.9
DANN	Benign	0.56
PhyloP100		0.19

Splicing

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

Other links and lift over

dbSNP: rs9276644; hg19: chr6-32745043;