rs6844851

Variant names:

• chr4-179766847-C-T
• rs6844851

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 0.472 in 151,862 control chromosomes in the GnomAD database, including 18,414 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 0.47 (18414 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.547

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.667 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: 0.472 AC: 71567 AN: 151744 Hom.: 18372 Cov.: 31

Gnomad AFR AF: 0.673

Gnomad AMI AF: 0.565

Gnomad AMR AF: 0.505

Gnomad ASJ AF: 0.490

Gnomad EAS AF: 0.571

Gnomad SAS AF: 0.410

Gnomad FIN AF: 0.364

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.353

Gnomad OTH AF: 0.481

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

GnomAD4 genome AF: 0.472 AC: 71665 AN: 151862 Hom.: 18414 Cov.: 31 AF XY: 0.475 AC XY: 35262 AN XY: 74198

Gnomad4 AFR AF: 0.674

Gnomad4 AMR AF: 0.505

Gnomad4 ASJ AF: 0.490

Gnomad4 EAS AF: 0.571

Gnomad4 SAS AF: 0.408

Gnomad4 FIN AF: 0.364

Gnomad4 NFE AF: 0.353

Gnomad4 OTH AF: 0.482

Alfa AF: 0.385 Hom.: 25779

Bravo AF: 0.493

Asia WGS AF: 0.500 AC: 1740 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	0.083
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6844851; hg19: chr4-180688000;