rs384156

Variant names:

• chr6-160324719-A-C
• rs384156

Your query was ambiguous. Multiple possible variants found:

• chr6-160324719-A-C
• chr6-160324719-A-G
• chr6-160324719-A-T

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 0.604 in 152,016 control chromosomes in the GnomAD database, including 28,121 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 0.60 (28121 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.48
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.672 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: 0.604 AC: 91809 AN: 151898 Hom.: 28097 Cov.: 32

Gnomad AFR AF: 0.543

Gnomad AMI AF: 0.547

Gnomad AMR AF: 0.517

Gnomad ASJ AF: 0.608

Gnomad EAS AF: 0.449

Gnomad SAS AF: 0.479

Gnomad FIN AF: 0.640

Gnomad MID AF: 0.557

Gnomad NFE AF: 0.677

Gnomad OTH AF: 0.610

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

GnomAD4 genome AF: 0.604 AC: 91875 AN: 152016 Hom.: 28121 Cov.: 32 AF XY: 0.599 AC XY: 44485 AN XY: 74306

African (AFR) AF: 0.544 AC: 22544 AN: 41462

American (AMR) AF: 0.516 AC: 7888 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.608 AC: 2110 AN: 3468

East Asian (EAS) AF: 0.449 AC: 2314 AN: 5148

South Asian (SAS) AF: 0.481 AC: 2318 AN: 4822

European-Finnish (FIN) AF: 0.640 AC: 6756 AN: 10560

Middle Eastern (MID) AF: 0.548 AC: 161 AN: 294

European-Non Finnish (NFE) AF: 0.677 AC: 46004 AN: 67948

Other (OTH) AF: 0.606 AC: 1282 AN: 2116

Alfa AF: 0.643 Hom.: 62269

Bravo AF: 0.595

Asia WGS AF: 0.449 AC: 1565 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	0.086
DANN	Benign	0.28
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs384156; hg19: chr6-160745751;