7-155827039-A-G

Variant names:

• chr7-155827039-A-G
• rs167020

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 0.768 in 151,812 control chromosomes in the GnomAD database, including 45,305 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 0.77 (45305 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.50
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.968 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: 0.768 AC: 116528 AN: 151696 Hom.: 45242 Cov.: 30

Gnomad AFR AF: 0.841

Gnomad AMI AF: 0.814

Gnomad AMR AF: 0.751

Gnomad ASJ AF: 0.698

Gnomad EAS AF: 0.990

Gnomad SAS AF: 0.902

Gnomad FIN AF: 0.686

Gnomad MID AF: 0.728

Gnomad NFE AF: 0.718

Gnomad OTH AF: 0.744

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

GnomAD4 genome AF: 0.768 AC: 116649 AN: 151812 Hom.: 45305 Cov.: 30 AF XY: 0.768 AC XY: 56942 AN XY: 74174

African (AFR) AF: 0.841 AC: 34761 AN: 41316

American (AMR) AF: 0.751 AC: 11465 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.698 AC: 2424 AN: 3472

East Asian (EAS) AF: 0.990 AC: 5112 AN: 5162

South Asian (SAS) AF: 0.902 AC: 4349 AN: 4822

European-Finnish (FIN) AF: 0.686 AC: 7196 AN: 10496

Middle Eastern (MID) AF: 0.721 AC: 212 AN: 294

European-Non Finnish (NFE) AF: 0.718 AC: 48814 AN: 67968

Other (OTH) AF: 0.747 AC: 1575 AN: 2108

Alfa AF: 0.730 Hom.: 79462

Bravo AF: 0.775

Asia WGS AF: 0.929 AC: 3230 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.14
DANN	Benign	0.21
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs167020; hg19: chr7-155619733;