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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.337 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

Gnomad4 AFR AF: 0.349

Gnomad4 AMR AF: 0.287

Gnomad4 ASJ AF: 0.365

Gnomad4 EAS AF: 0.315

Gnomad4 SAS AF: 0.314

Gnomad4 FIN AF: 0.310

Gnomad4 NFE AF: 0.346

Gnomad4 OTH AF: 0.344

Alfa AF: 0.337 Hom.: 11547

Bravo AF: 0.334

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9276644; hg19: chr6-32745043;