8-37238541-G-T

Variant names:

• chr8-37238541-G-T
• rs1015003

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 0.584 in 151,572 control chromosomes in the GnomAD database, including 26,175 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 0.58 (26175 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.30
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.7 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: 0.584 AC: 88393 AN: 151454 Hom.: 26129 Cov.: 30

Gnomad AFR AF: 0.665

Gnomad AMI AF: 0.380

Gnomad AMR AF: 0.519

Gnomad ASJ AF: 0.569

Gnomad EAS AF: 0.720

Gnomad SAS AF: 0.703

Gnomad FIN AF: 0.556

Gnomad MID AF: 0.589

Gnomad NFE AF: 0.538

Gnomad OTH AF: 0.558

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

GnomAD4 genome AF: 0.584 AC: 88494 AN: 151572 Hom.: 26175 Cov.: 30 AF XY: 0.584 AC XY: 43232 AN XY: 74054

African (AFR) AF: 0.666 AC: 27486 AN: 41296

American (AMR) AF: 0.519 AC: 7918 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.569 AC: 1972 AN: 3466

East Asian (EAS) AF: 0.719 AC: 3668 AN: 5102

South Asian (SAS) AF: 0.702 AC: 3359 AN: 4782

European-Finnish (FIN) AF: 0.556 AC: 5841 AN: 10496

Middle Eastern (MID) AF: 0.582 AC: 171 AN: 294

European-Non Finnish (NFE) AF: 0.538 AC: 36550 AN: 67882

Other (OTH) AF: 0.563 AC: 1183 AN: 2100

Alfa AF: 0.553 Hom.: 97874

Bravo AF: 0.581

Asia WGS AF: 0.712 AC: 2471 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.0050
DANN	Benign	0.39
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs1015003; hg19: chr8-37096059;