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. The variant received -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
• Publications: 8 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.895 AC: 36939 AN: 41294

American (AMR) AF: 0.842 AC: 12837 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.889 AC: 3082 AN: 3468

East Asian (EAS) AF: 0.890 AC: 4595 AN: 5164

South Asian (SAS) AF: 0.881 AC: 4226 AN: 4796

European-Finnish (FIN) AF: 0.815 AC: 8428 AN: 10344

Middle Eastern (MID) AF: 0.912 AC: 268 AN: 294

European-Non Finnish (NFE) AF: 0.873 AC: 59313 AN: 67968

Other (OTH) AF: 0.888 AC: 1873 AN: 2110

Alfa AF: 0.876 Hom.: 208566

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
PhyloP100		0.28

Splicing

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

Other links and lift over

dbSNP: rs4737395; hg19: chr8-56599548;