rs309844

Variant names:

• chr8-29995847-G-A
• rs309844

Your query was ambiguous. Multiple possible variants found:

• chr8-29995847-G-A
• chr8-29995847-G-C
• chr8-29995847-G-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 0.194 in 151,840 control chromosomes in the GnomAD database, including 3,337 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 0.19 (3337 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.505
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.241 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: 0.194 AC: 29460 AN: 151722 Hom.: 3336 Cov.: 31

Gnomad AFR AF: 0.107

Gnomad AMI AF: 0.284

Gnomad AMR AF: 0.157

Gnomad ASJ AF: 0.241

Gnomad EAS AF: 0.0238

Gnomad SAS AF: 0.128

Gnomad FIN AF: 0.360

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.244

Gnomad OTH AF: 0.212

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

GnomAD4 genome AF: 0.194 AC: 29471 AN: 151840 Hom.: 3337 Cov.: 31 AF XY: 0.197 AC XY: 14624 AN XY: 74156

African (AFR) AF: 0.107 AC: 4428 AN: 41428

American (AMR) AF: 0.157 AC: 2388 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.241 AC: 837 AN: 3466

East Asian (EAS) AF: 0.0240 AC: 124 AN: 5166

South Asian (SAS) AF: 0.129 AC: 619 AN: 4812

European-Finnish (FIN) AF: 0.360 AC: 3767 AN: 10478

Middle Eastern (MID) AF: 0.133 AC: 39 AN: 294

European-Non Finnish (NFE) AF: 0.244 AC: 16557 AN: 67922

Other (OTH) AF: 0.214 AC: 453 AN: 2114

Alfa AF: 0.213 Hom.: 6496

Bravo AF: 0.175

Asia WGS AF: 0.0950 AC: 333 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.4
DANN	Benign	0.42
PhyloP100		-0.51

Splicing

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

Other links and lift over

dbSNP: rs309844; hg19: chr8-29853363;