8-37344787-A-T

Variant names:

• chr8-37344787-A-T
• rs459199

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 0.823 in 152,150 control chromosomes in the GnomAD database, including 52,989 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 0.82 (52989 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.04
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.948 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: 0.823 AC: 125135 AN: 152032 Hom.: 52962 Cov.: 31

Gnomad AFR AF: 0.601

Gnomad AMI AF: 0.901

Gnomad AMR AF: 0.885

Gnomad ASJ AF: 0.892

Gnomad EAS AF: 0.971

Gnomad SAS AF: 0.950

Gnomad FIN AF: 0.904

Gnomad MID AF: 0.873

Gnomad NFE AF: 0.906

Gnomad OTH AF: 0.840

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

GnomAD4 genome AF: 0.823 AC: 125216 AN: 152150 Hom.: 52989 Cov.: 31 AF XY: 0.827 AC XY: 61517 AN XY: 74398

African (AFR) AF: 0.602 AC: 24937 AN: 41440

American (AMR) AF: 0.885 AC: 13537 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.892 AC: 3098 AN: 3472

East Asian (EAS) AF: 0.970 AC: 5027 AN: 5180

South Asian (SAS) AF: 0.950 AC: 4583 AN: 4826

European-Finnish (FIN) AF: 0.904 AC: 9590 AN: 10608

Middle Eastern (MID) AF: 0.874 AC: 257 AN: 294

European-Non Finnish (NFE) AF: 0.906 AC: 61597 AN: 68020

Other (OTH) AF: 0.840 AC: 1770 AN: 2108

Alfa AF: 0.860 Hom.: 7128

Bravo AF: 0.813

Asia WGS AF: 0.919 AC: 3197 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.41
DANN	Benign	0.33
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs459199; hg19: chr8-37202305;