8-103341105-T-G

Variant names:

• chr8-103341105-T-G
• rs951826

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 0.818 in 152,146 control chromosomes in the GnomAD database, including 51,122 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 (51122 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0950

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.968 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: 0.818 AC: 124338 AN: 152028 Hom.: 51078 Cov.: 32

Gnomad AFR AF: 0.862

Gnomad AMI AF: 0.784

Gnomad AMR AF: 0.857

Gnomad ASJ AF: 0.718

Gnomad EAS AF: 0.991

Gnomad SAS AF: 0.836

Gnomad FIN AF: 0.835

Gnomad MID AF: 0.690

Gnomad NFE AF: 0.771

Gnomad OTH AF: 0.803

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

GnomAD4 genome AF: 0.818 AC: 124442 AN: 152146 Hom.: 51122 Cov.: 32 AF XY: 0.823 AC XY: 61226 AN XY: 74380

Gnomad4 AFR AF: 0.862

Gnomad4 AMR AF: 0.857

Gnomad4 ASJ AF: 0.718

Gnomad4 EAS AF: 0.991

Gnomad4 SAS AF: 0.835

Gnomad4 FIN AF: 0.835

Gnomad4 NFE AF: 0.771

Gnomad4 OTH AF: 0.805

Alfa AF: 0.778 Hom.: 42999

Bravo AF: 0.823

Asia WGS AF: 0.916 AC: 3186 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	3.0
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs951826; hg19: chr8-104353333;