4-155814287-G-A

Variant names:

• chr4-155814287-G-A
• rs17033585

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 0.178 in 151,998 control chromosomes in the GnomAD database, including 2,664 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 0.18 (2664 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.326
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.293 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.178 AC: 27061 AN: 151878 Hom.: 2664 Cov.: 32

Gnomad AFR AF: 0.118

Gnomad AMI AF: 0.302

Gnomad AMR AF: 0.163

Gnomad ASJ AF: 0.276

Gnomad EAS AF: 0.0996

Gnomad SAS AF: 0.307

Gnomad FIN AF: 0.145

Gnomad MID AF: 0.306

Gnomad NFE AF: 0.212

Gnomad OTH AF: 0.203

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

GnomAD4 genome AF: 0.178 AC: 27052 AN: 151998 Hom.: 2664 Cov.: 32 AF XY: 0.176 AC XY: 13068 AN XY: 74296

African (AFR) AF: 0.118 AC: 4896 AN: 41470

American (AMR) AF: 0.163 AC: 2485 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.276 AC: 958 AN: 3470

East Asian (EAS) AF: 0.100 AC: 517 AN: 5168

South Asian (SAS) AF: 0.306 AC: 1476 AN: 4818

European-Finnish (FIN) AF: 0.145 AC: 1527 AN: 10564

Middle Eastern (MID) AF: 0.295 AC: 86 AN: 292

European-Non Finnish (NFE) AF: 0.212 AC: 14407 AN: 67938

Other (OTH) AF: 0.203 AC: 426 AN: 2100

Alfa AF: 0.200 Hom.: 2212

Bravo AF: 0.174

Asia WGS AF: 0.164 AC: 569 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.18
DANN	Benign	0.88
PhyloP100		-0.33

Splicing

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

Other links and lift over

dbSNP: rs17033585; hg19: chr4-156735439;