rs9275523

Variant names:

• chr6-32707217-C-A
• rs9275523

Your query was ambiguous. Multiple possible variants found:

• chr6-32707217-C-A
• chr6-32707217-C-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 0.269 in 137,310 control chromosomes in the GnomAD database, including 4,681 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 0.27 (4681 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.124
• Publications: 20 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.335 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: 0.269 AC: 36889 AN: 137186 Hom.: 4675 Cov.: 31

Gnomad AFR AF: 0.245

Gnomad AMI AF: 0.403

Gnomad AMR AF: 0.335

Gnomad ASJ AF: 0.356

Gnomad EAS AF: 0.350

Gnomad SAS AF: 0.248

Gnomad FIN AF: 0.365

Gnomad MID AF: 0.205

Gnomad NFE AF: 0.242

Gnomad OTH AF: 0.277

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

GnomAD4 genome AF: 0.269 AC: 36931 AN: 137310 Hom.: 4681 Cov.: 31 AF XY: 0.276 AC XY: 18507 AN XY: 67120

African (AFR) AF: 0.245 AC: 9174 AN: 37446

American (AMR) AF: 0.335 AC: 4596 AN: 13708

Ashkenazi Jewish (ASJ) AF: 0.356 AC: 1060 AN: 2976

East Asian (EAS) AF: 0.350 AC: 1583 AN: 4528

South Asian (SAS) AF: 0.250 AC: 962 AN: 3854

European-Finnish (FIN) AF: 0.365 AC: 3709 AN: 10174

Middle Eastern (MID) AF: 0.204 AC: 49 AN: 240

European-Non Finnish (NFE) AF: 0.242 AC: 14956 AN: 61702

Other (OTH) AF: 0.275 AC: 513 AN: 1866

Alfa AF: 0.226 Hom.: 6151

Bravo AF: 0.242

Asia WGS AF: 0.241 AC: 844 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	7.7
DANN	Benign	0.57
PhyloP100		0.12

Splicing

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

Other links and lift over

dbSNP: rs9275523; hg19: chr6-32674994;