rs9369675

Variant names:

• chr6-47347073-C-A
• rs9369675

Your query was ambiguous. Multiple possible variants found:

• chr6-47347073-C-A
• chr6-47347073-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 0.114 in 152,196 control chromosomes in the GnomAD database, including 2,084 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 (2084 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.305
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.58 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: 0.113 AC: 17237 AN: 152078 Hom.: 2072 Cov.: 32

Gnomad AFR AF: 0.142

Gnomad AMI AF: 0.00877

Gnomad AMR AF: 0.241

Gnomad ASJ AF: 0.0594

Gnomad EAS AF: 0.596

Gnomad SAS AF: 0.145

Gnomad FIN AF: 0.0547

Gnomad MID AF: 0.0411

Gnomad NFE AF: 0.0423

Gnomad OTH AF: 0.102

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

GnomAD4 genome AF: 0.114 AC: 17290 AN: 152196 Hom.: 2084 Cov.: 32 AF XY: 0.120 AC XY: 8903 AN XY: 74406

African (AFR) AF: 0.142 AC: 5899 AN: 41518

American (AMR) AF: 0.242 AC: 3708 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0594 AC: 206 AN: 3468

East Asian (EAS) AF: 0.597 AC: 3083 AN: 5160

South Asian (SAS) AF: 0.144 AC: 695 AN: 4824

European-Finnish (FIN) AF: 0.0547 AC: 580 AN: 10604

Middle Eastern (MID) AF: 0.0374 AC: 11 AN: 294

European-Non Finnish (NFE) AF: 0.0423 AC: 2879 AN: 68012

Other (OTH) AF: 0.105 AC: 221 AN: 2112

Alfa AF: 0.0695 Hom.: 2437

Bravo AF: 0.134

Asia WGS AF: 0.342 AC: 1185 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	2.4
DANN	Benign	0.78
PhyloP100		0.30

Splicing

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

Other links and lift over

dbSNP: rs9369675; hg19: chr6-47314809;