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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.473 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

Gnomad4 AFR AF: 0.266

Gnomad4 AMR AF: 0.361

Gnomad4 ASJ AF: 0.607

Gnomad4 EAS AF: 0.203

Gnomad4 SAS AF: 0.493

Gnomad4 FIN AF: 0.613

Gnomad4 NFE AF: 0.608

Gnomad4 OTH AF: 0.502

Alfa AF: 0.571 Hom.: 11523

Bravo AF: 0.441

Asia WGS AF: 0.347 AC: 1207 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7837448; hg19: chr8-114818735;