rs6427184

Variant names:

• chr1-155150307-G-A
• rs6427184

Your query was ambiguous. Multiple possible variants found:

• chr1-155150307-G-A
• chr1-155150307-G-C

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 0.898 in 152,232 control chromosomes in the GnomAD database, including 61,526 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 0.90 (61526 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.607
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.966 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: 0.898 AC: 136543 AN: 152114 Hom.: 61476 Cov.: 32

Gnomad AFR AF: 0.974

Gnomad AMI AF: 0.807

Gnomad AMR AF: 0.882

Gnomad ASJ AF: 0.837

Gnomad EAS AF: 0.988

Gnomad SAS AF: 0.860

Gnomad FIN AF: 0.850

Gnomad MID AF: 0.867

Gnomad NFE AF: 0.863

Gnomad OTH AF: 0.876

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

GnomAD4 genome AF: 0.898 AC: 136650 AN: 152232 Hom.: 61526 Cov.: 32 AF XY: 0.895 AC XY: 66632 AN XY: 74436

African (AFR) AF: 0.974 AC: 40475 AN: 41546

American (AMR) AF: 0.882 AC: 13471 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.837 AC: 2905 AN: 3472

East Asian (EAS) AF: 0.988 AC: 5129 AN: 5192

South Asian (SAS) AF: 0.859 AC: 4142 AN: 4822

European-Finnish (FIN) AF: 0.850 AC: 9006 AN: 10592

Middle Eastern (MID) AF: 0.864 AC: 254 AN: 294

European-Non Finnish (NFE) AF: 0.863 AC: 58688 AN: 68018

Other (OTH) AF: 0.874 AC: 1847 AN: 2114

Alfa AF: 0.864 Hom.: 85517

Bravo AF: 0.903

Asia WGS AF: 0.907 AC: 3155 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	1.3
DANN	Benign	0.21
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs6427184; hg19: chr1-155122783;