rs9470367

Variant names:

• chr6-36659155-G-C
• rs9470367

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 0.326 in 152,046 control chromosomes in the GnomAD database, including 9,648 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 0.33 (9648 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0380

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 (NFE) allele frequency at 95% confidence interval = 0.435 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: 0.326 AC: 49578 AN: 151928 Hom.: 9651 Cov.: 32

Gnomad AFR AF: 0.121

Gnomad AMI AF: 0.483

Gnomad AMR AF: 0.291

Gnomad ASJ AF: 0.295

Gnomad EAS AF: 0.272

Gnomad SAS AF: 0.335

Gnomad FIN AF: 0.486

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.439

Gnomad OTH AF: 0.290

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

GnomAD4 genome AF: 0.326 AC: 49571 AN: 152046 Hom.: 9648 Cov.: 32 AF XY: 0.327 AC XY: 24258 AN XY: 74292

Gnomad4 AFR AF: 0.121

Gnomad4 AMR AF: 0.291

Gnomad4 ASJ AF: 0.295

Gnomad4 EAS AF: 0.272

Gnomad4 SAS AF: 0.335

Gnomad4 FIN AF: 0.486

Gnomad4 NFE AF: 0.439

Gnomad4 OTH AF: 0.286

Alfa AF: 0.379 Hom.: 1507

Bravo AF: 0.300

Asia WGS AF: 0.274 AC: 952 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.4
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9470367; hg19: chr6-36626932;