6-47351111-C-G

Variant names:

• chr6-47351111-C-G
• rs9395248

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 0.0996 in 151,890 control chromosomes in the GnomAD database, including 1,810 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 0.10 (1810 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.577 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: 0.0993 AC: 15077 AN: 151772 Hom.: 1797 Cov.: 32

Gnomad AFR AF: 0.0939

Gnomad AMI AF: 0.00877

Gnomad AMR AF: 0.236

Gnomad ASJ AF: 0.0589

Gnomad EAS AF: 0.594

Gnomad SAS AF: 0.141

Gnomad FIN AF: 0.0548

Gnomad MID AF: 0.0411

Gnomad NFE AF: 0.0423

Gnomad OTH AF: 0.0951

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

GnomAD4 genome AF: 0.0996 AC: 15126 AN: 151890 Hom.: 1810 Cov.: 32 AF XY: 0.106 AC XY: 7858 AN XY: 74248

African (AFR) AF: 0.0943 AC: 3906 AN: 41434

American (AMR) AF: 0.237 AC: 3616 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.0589 AC: 204 AN: 3466

East Asian (EAS) AF: 0.595 AC: 3054 AN: 5134

South Asian (SAS) AF: 0.140 AC: 671 AN: 4792

European-Finnish (FIN) AF: 0.0548 AC: 579 AN: 10572

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

European-Non Finnish (NFE) AF: 0.0423 AC: 2872 AN: 67938

Other (OTH) AF: 0.0974 AC: 205 AN: 2104

Alfa AF: 0.0180 Hom.: 6

Bravo AF: 0.118

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	2.2
DANN	Benign	0.22
PhyloP100		0.0

Splicing

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

Other links and lift over

dbSNP: rs9395248; hg19: chr6-47318847;