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. The variant received -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
• Publications: 25 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0238 AC: 990 AN: 41528

American (AMR) AF: 0.105 AC: 1604 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.137 AC: 475 AN: 3472

East Asian (EAS) AF: 0.424 AC: 2192 AN: 5174

South Asian (SAS) AF: 0.185 AC: 889 AN: 4818

European-Finnish (FIN) AF: 0.132 AC: 1398 AN: 10588

Middle Eastern (MID) AF: 0.150 AC: 44 AN: 294

European-Non Finnish (NFE) AF: 0.121 AC: 8197 AN: 67994

Other (OTH) AF: 0.123 AC: 260 AN: 2108

Alfa AF: 0.116 Hom.: 3564

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
PhyloP100		0.48

Splicing

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

Other links and lift over

dbSNP: rs9277952; hg19: chr6-33204274;