rs9295684

Variant names:

• chr6-26069441-T-C
• rs9295684

Your query was ambiguous. Multiple possible variants found:

• chr6-26069441-T-C
• chr6-26069441-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 0.383 in 152,046 control chromosomes in the GnomAD database, including 12,168 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 0.38 (12168 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0930
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.727 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: 0.383 AC: 58230 AN: 151928 Hom.: 12165 Cov.: 31

Gnomad AFR AF: 0.241

Gnomad AMI AF: 0.476

Gnomad AMR AF: 0.415

Gnomad ASJ AF: 0.314

Gnomad EAS AF: 0.747

Gnomad SAS AF: 0.378

Gnomad FIN AF: 0.523

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.416

Gnomad OTH AF: 0.383

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

GnomAD4 genome AF: 0.383 AC: 58249 AN: 152046 Hom.: 12168 Cov.: 31 AF XY: 0.391 AC XY: 29037 AN XY: 74292

African (AFR) AF: 0.241 AC: 10005 AN: 41490

American (AMR) AF: 0.415 AC: 6348 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.314 AC: 1090 AN: 3466

East Asian (EAS) AF: 0.746 AC: 3845 AN: 5152

South Asian (SAS) AF: 0.378 AC: 1819 AN: 4816

European-Finnish (FIN) AF: 0.523 AC: 5534 AN: 10572

Middle Eastern (MID) AF: 0.272 AC: 80 AN: 294

European-Non Finnish (NFE) AF: 0.416 AC: 28286 AN: 67966

Other (OTH) AF: 0.385 AC: 809 AN: 2100

Alfa AF: 0.402 Hom.: 23008

Bravo AF: 0.371

Asia WGS AF: 0.528 AC: 1833 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	2.5
DANN	Benign	0.67
PhyloP100		0.093

Splicing

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

Other links and lift over

dbSNP: rs9295684; hg19: chr6-26069669;