8-141939370-C-T

Variant names:

• chr8-141939370-C-T
• rs7845056

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 0.477 in 152,064 control chromosomes in the GnomAD database, including 20,086 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 0.48 (20086 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.952
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.606 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: 0.477 AC: 72487 AN: 151946 Hom.: 20079 Cov.: 32

Gnomad AFR AF: 0.173

Gnomad AMI AF: 0.538

Gnomad AMR AF: 0.585

Gnomad ASJ AF: 0.614

Gnomad EAS AF: 0.435

Gnomad SAS AF: 0.620

Gnomad FIN AF: 0.546

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.611

Gnomad OTH AF: 0.530

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

GnomAD4 genome AF: 0.477 AC: 72507 AN: 152064 Hom.: 20086 Cov.: 32 AF XY: 0.477 AC XY: 35449 AN XY: 74296

African (AFR) AF: 0.172 AC: 7154 AN: 41506

American (AMR) AF: 0.586 AC: 8956 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.614 AC: 2130 AN: 3468

East Asian (EAS) AF: 0.435 AC: 2231 AN: 5132

South Asian (SAS) AF: 0.622 AC: 2992 AN: 4810

European-Finnish (FIN) AF: 0.546 AC: 5771 AN: 10572

Middle Eastern (MID) AF: 0.456 AC: 134 AN: 294

European-Non Finnish (NFE) AF: 0.611 AC: 41529 AN: 67964

Other (OTH) AF: 0.530 AC: 1120 AN: 2112

Alfa AF: 0.559 Hom.: 63039

Bravo AF: 0.465

Asia WGS AF: 0.497 AC: 1728 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.9
DANN	Benign	0.54
PhyloP100		0.95

Splicing

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

Other links and lift over

dbSNP: rs7845056; hg19: chr8-143020731;