chr8-93748712-T-G

Variant names:

• chr8-93748712-T-G
• rs3097422

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 0.639 in 151,882 control chromosomes in the GnomAD database, including 31,503 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 0.64 (31503 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.799
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.813 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: 0.639 AC: 96997 AN: 151764 Hom.: 31449 Cov.: 31

Gnomad AFR AF: 0.716

Gnomad AMI AF: 0.703

Gnomad AMR AF: 0.658

Gnomad ASJ AF: 0.645

Gnomad EAS AF: 0.835

Gnomad SAS AF: 0.623

Gnomad FIN AF: 0.578

Gnomad MID AF: 0.601

Gnomad NFE AF: 0.584

Gnomad OTH AF: 0.614

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

GnomAD4 genome AF: 0.639 AC: 97113 AN: 151882 Hom.: 31503 Cov.: 31 AF XY: 0.641 AC XY: 47596 AN XY: 74208

African (AFR) AF: 0.717 AC: 29680 AN: 41422

American (AMR) AF: 0.658 AC: 10054 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.645 AC: 2232 AN: 3462

East Asian (EAS) AF: 0.834 AC: 4301 AN: 5156

South Asian (SAS) AF: 0.623 AC: 2996 AN: 4808

European-Finnish (FIN) AF: 0.578 AC: 6082 AN: 10524

Middle Eastern (MID) AF: 0.612 AC: 180 AN: 294

European-Non Finnish (NFE) AF: 0.584 AC: 39640 AN: 67918

Other (OTH) AF: 0.619 AC: 1307 AN: 2110

Alfa AF: 0.599 Hom.: 45785

Bravo AF: 0.649

Asia WGS AF: 0.709 AC: 2468 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	15
DANN	Benign	0.92
PhyloP100		-0.80

Splicing

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

Other links and lift over

dbSNP: rs3097422; hg19: chr8-94760940;