rs9277916

Variant names:

• chr6-33157659-C-G
• rs9277916

Your query was ambiguous. Multiple possible variants found:

• chr6-33157659-C-G
• chr6-33157659-C-T

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 0.311 in 152,106 control chromosomes in the GnomAD database, including 7,852 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 0.31 (7852 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.24
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.539 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: 0.311 AC: 47248 AN: 151988 Hom.: 7855 Cov.: 32

Gnomad AFR AF: 0.233

Gnomad AMI AF: 0.453

Gnomad AMR AF: 0.311

Gnomad ASJ AF: 0.498

Gnomad EAS AF: 0.360

Gnomad SAS AF: 0.557

Gnomad FIN AF: 0.261

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.331

Gnomad OTH AF: 0.345

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

GnomAD4 genome AF: 0.311 AC: 47253 AN: 152106 Hom.: 7852 Cov.: 32 AF XY: 0.313 AC XY: 23308 AN XY: 74348

African (AFR) AF: 0.233 AC: 9666 AN: 41492

American (AMR) AF: 0.310 AC: 4745 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.498 AC: 1729 AN: 3470

East Asian (EAS) AF: 0.360 AC: 1862 AN: 5178

South Asian (SAS) AF: 0.556 AC: 2678 AN: 4814

European-Finnish (FIN) AF: 0.261 AC: 2764 AN: 10578

Middle Eastern (MID) AF: 0.483 AC: 142 AN: 294

European-Non Finnish (NFE) AF: 0.331 AC: 22531 AN: 67974

Other (OTH) AF: 0.342 AC: 724 AN: 2114

Alfa AF: 0.183 Hom.: 401

Bravo AF: 0.308

Asia WGS AF: 0.432 AC: 1500 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.56
DANN	Benign	0.40
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs9277916; hg19: chr6-33125436;