8-37238541-G-T

Position:

• chr8-37238541-G-T

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 0.584 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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

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

Gnomad4 AFR AF: 0.666

Gnomad4 AMR AF: 0.519

Gnomad4 ASJ AF: 0.569

Gnomad4 EAS AF: 0.719

Gnomad4 SAS AF: 0.702

Gnomad4 FIN AF: 0.556

Gnomad4 NFE AF: 0.538

Gnomad4 OTH AF: 0.563

Alfa AF: 0.545 Hom.: 45861

Bravo AF: 0.581

Asia WGS AF: 0.712 AC: 2471 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1015003; hg19: chr8-37096059;