rs6844851

Variant names:

• chr4-179766847-C-T
• rs6844851

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 0.472 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
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.674 AC: 27889 AN: 41406

American (AMR) AF: 0.505 AC: 7694 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.490 AC: 1697 AN: 3466

East Asian (EAS) AF: 0.571 AC: 2941 AN: 5150

South Asian (SAS) AF: 0.408 AC: 1966 AN: 4816

European-Finnish (FIN) AF: 0.364 AC: 3831 AN: 10526

Middle Eastern (MID) AF: 0.469 AC: 138 AN: 294

European-Non Finnish (NFE) AF: 0.353 AC: 23977 AN: 67940

Other (OTH) AF: 0.482 AC: 1018 AN: 2110

Alfa AF: 0.404 Hom.: 43399

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
PhyloP100		-0.55

Splicing

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

Other links and lift over

dbSNP: rs6844851; hg19: chr4-180688000;