rs4737395

Variant names:

• chr8-55686989-G-A
• rs4737395

Your query was ambiguous. Multiple possible variants found:

• chr8-55686989-G-A
• chr8-55686989-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 0.874 in 151,602 control chromosomes in the GnomAD database, including 57,884 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 0.87 (57884 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.283

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.887 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: 0.874 AC: 132334 AN: 151486 Hom.: 57842 Cov.: 28

Gnomad AFR AF: 0.894

Gnomad AMI AF: 0.958

Gnomad AMR AF: 0.842

Gnomad ASJ AF: 0.889

Gnomad EAS AF: 0.890

Gnomad SAS AF: 0.882

Gnomad FIN AF: 0.815

Gnomad MID AF: 0.908

Gnomad NFE AF: 0.873

Gnomad OTH AF: 0.891

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

GnomAD4 genome AF: 0.874 AC: 132433 AN: 151602 Hom.: 57884 Cov.: 28 AF XY: 0.870 AC XY: 64394 AN XY: 73996

Gnomad4 AFR AF: 0.895

Gnomad4 AMR AF: 0.842

Gnomad4 ASJ AF: 0.889

Gnomad4 EAS AF: 0.890

Gnomad4 SAS AF: 0.881

Gnomad4 FIN AF: 0.815

Gnomad4 NFE AF: 0.873

Gnomad4 OTH AF: 0.888

Alfa AF: 0.877 Hom.: 81036

Bravo AF: 0.877

Asia WGS AF: 0.865 AC: 3009 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	3.4
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4737395; hg19: chr8-56599548;