rs7837448

Variant names:

• chr8-113806506-G-A
• rs7837448

Your query was ambiguous. Multiple possible variants found:

• chr8-113806506-G-A
• chr8-113806506-G-C

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 0.472 in 151,778 control chromosomes in the GnomAD database, including 19,063 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 0.47 (19063 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.243
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.603 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.473 AC: 71686 AN: 151660 Hom.: 19062 Cov.: 30

Gnomad AFR AF: 0.267

Gnomad AMI AF: 0.741

Gnomad AMR AF: 0.361

Gnomad ASJ AF: 0.607

Gnomad EAS AF: 0.203

Gnomad SAS AF: 0.491

Gnomad FIN AF: 0.613

Gnomad MID AF: 0.566

Gnomad NFE AF: 0.608

Gnomad OTH AF: 0.503

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

GnomAD4 genome AF: 0.472 AC: 71704 AN: 151778 Hom.: 19063 Cov.: 30 AF XY: 0.468 AC XY: 34692 AN XY: 74148

African (AFR) AF: 0.266 AC: 11021 AN: 41356

American (AMR) AF: 0.361 AC: 5501 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.607 AC: 2108 AN: 3472

East Asian (EAS) AF: 0.203 AC: 1044 AN: 5148

South Asian (SAS) AF: 0.493 AC: 2367 AN: 4806

European-Finnish (FIN) AF: 0.613 AC: 6435 AN: 10506

Middle Eastern (MID) AF: 0.578 AC: 170 AN: 294

European-Non Finnish (NFE) AF: 0.608 AC: 41331 AN: 67934

Other (OTH) AF: 0.502 AC: 1056 AN: 2104

Alfa AF: 0.572 Hom.: 12834

Bravo AF: 0.441

Asia WGS AF: 0.347 AC: 1207 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.52
DANN	Benign	0.85
PhyloP100		-0.24

Splicing

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

Other links and lift over

dbSNP: rs7837448; hg19: chr8-114818735;