8-64371134-G-T

Variant names:

• chr8-64371134-G-T
• rs190938

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 0.773 in 152,158 control chromosomes in the GnomAD database, including 45,856 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 0.77 (45856 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.114

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.811 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: 0.773 AC: 117581 AN: 152040 Hom.: 45838 Cov.: 33

Gnomad AFR AF: 0.704

Gnomad AMI AF: 0.762

Gnomad AMR AF: 0.793

Gnomad ASJ AF: 0.731

Gnomad EAS AF: 0.613

Gnomad SAS AF: 0.652

Gnomad FIN AF: 0.887

Gnomad MID AF: 0.785

Gnomad NFE AF: 0.817

Gnomad OTH AF: 0.777

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

GnomAD4 genome AF: 0.773 AC: 117642 AN: 152158 Hom.: 45856 Cov.: 33 AF XY: 0.774 AC XY: 57586 AN XY: 74392

Gnomad4 AFR AF: 0.703

Gnomad4 AMR AF: 0.793

Gnomad4 ASJ AF: 0.731

Gnomad4 EAS AF: 0.612

Gnomad4 SAS AF: 0.652

Gnomad4 FIN AF: 0.887

Gnomad4 NFE AF: 0.816

Gnomad4 OTH AF: 0.775

Alfa AF: 0.801 Hom.: 98513

Bravo AF: 0.764

Asia WGS AF: 0.628 AC: 2183 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	2.7
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs190938; hg19: chr8-65283691;