rs7844961

Variant names:

• chr8-142920768-C-T
• rs7844961

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 0.107 in 152,112 control chromosomes in the GnomAD database, including 1,039 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 0.11 (1039 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.483

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.176 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: 0.106 AC: 16187 AN: 151994 Hom.: 1038 Cov.: 32

Gnomad AFR AF: 0.180

Gnomad AMI AF: 0.0395

Gnomad AMR AF: 0.0693

Gnomad ASJ AF: 0.0648

Gnomad EAS AF: 0.00135

Gnomad SAS AF: 0.100

Gnomad FIN AF: 0.0733

Gnomad MID AF: 0.169

Gnomad NFE AF: 0.0867

Gnomad OTH AF: 0.102

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

GnomAD4 genome AF: 0.107 AC: 16203 AN: 152112 Hom.: 1039 Cov.: 32 AF XY: 0.104 AC XY: 7742 AN XY: 74356

Gnomad4 AFR AF: 0.180

Gnomad4 AMR AF: 0.0690

Gnomad4 ASJ AF: 0.0648

Gnomad4 EAS AF: 0.00135

Gnomad4 SAS AF: 0.101

Gnomad4 FIN AF: 0.0733

Gnomad4 NFE AF: 0.0867

Gnomad4 OTH AF: 0.101

Alfa AF: 0.0873 Hom.: 1283

Bravo AF: 0.108

Asia WGS AF: 0.0460 AC: 162 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.1
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7844961; hg19: chr8-144002184;