rs9277952

Variant names:

• chr6-33236497-G-A
• rs9277952

Your query was ambiguous. Multiple possible variants found:

• chr6-33236497-G-A
• chr6-33236497-G-C

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 0.106 in 152,162 control chromosomes in the GnomAD database, including 1,299 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 0.11 (1299 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.484

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.409 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: 0.107 AC: 16196 AN: 152044 Hom.: 1295 Cov.: 31

Gnomad AFR AF: 0.0239

Gnomad AMI AF: 0.168

Gnomad AMR AF: 0.105

Gnomad ASJ AF: 0.137

Gnomad EAS AF: 0.424

Gnomad SAS AF: 0.184

Gnomad FIN AF: 0.132

Gnomad MID AF: 0.136

Gnomad NFE AF: 0.121

Gnomad OTH AF: 0.118

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

GnomAD4 genome AF: 0.106 AC: 16202 AN: 152162 Hom.: 1299 Cov.: 31 AF XY: 0.110 AC XY: 8164 AN XY: 74396

Gnomad4 AFR AF: 0.0238

Gnomad4 AMR AF: 0.105

Gnomad4 ASJ AF: 0.137

Gnomad4 EAS AF: 0.424

Gnomad4 SAS AF: 0.185

Gnomad4 FIN AF: 0.132

Gnomad4 NFE AF: 0.121

Gnomad4 OTH AF: 0.123

Alfa AF: 0.116 Hom.: 693

Bravo AF: 0.102

Asia WGS AF: 0.286 AC: 995 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	6.3
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9277952; hg19: chr6-33204274;