rs9320147

Variant names:

• chr6-95393356-T-C
• rs9320147

Your query was ambiguous. Multiple possible variants found:

• chr6-95393356-T-C
• chr6-95393356-T-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 0.0527 in 152,250 control chromosomes in the GnomAD database, including 879 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 0.053 (879 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.258
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.479 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: 0.0527 AC: 8012 AN: 152132 Hom.: 878 Cov.: 32

Gnomad AFR AF: 0.0846

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0177

Gnomad ASJ AF: 0.00173

Gnomad EAS AF: 0.494

Gnomad SAS AF: 0.155

Gnomad FIN AF: 0.0324

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.00703

Gnomad OTH AF: 0.0435

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

GnomAD4 genome AF: 0.0527 AC: 8016 AN: 152250 Hom.: 879 Cov.: 32 AF XY: 0.0581 AC XY: 4328 AN XY: 74446

African (AFR) AF: 0.0845 AC: 3508 AN: 41538

American (AMR) AF: 0.0177 AC: 270 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.00173 AC: 6 AN: 3470

East Asian (EAS) AF: 0.495 AC: 2558 AN: 5170

South Asian (SAS) AF: 0.155 AC: 746 AN: 4824

European-Finnish (FIN) AF: 0.0324 AC: 344 AN: 10622

Middle Eastern (MID) AF: 0.0340 AC: 10 AN: 294

European-Non Finnish (NFE) AF: 0.00703 AC: 478 AN: 68016

Other (OTH) AF: 0.0454 AC: 96 AN: 2114

Alfa AF: 0.0300 Hom.: 797

Bravo AF: 0.0522

Asia WGS AF: 0.251 AC: 871 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.6
DANN	Benign	0.50
PhyloP100		0.26

Splicing

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

Other links and lift over

dbSNP: rs9320147; hg19: chr6-95841232;