7-151426443-A-G

Variant names:

• chr7-151426443-A-G
• rs7792547

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 0.489 in 152,084 control chromosomes in the GnomAD database, including 18,566 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 0.49 (18566 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.359
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.569 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: 0.489 AC: 74305 AN: 151966 Hom.: 18545 Cov.: 33

Gnomad AFR AF: 0.446

Gnomad AMI AF: 0.646

Gnomad AMR AF: 0.397

Gnomad ASJ AF: 0.628

Gnomad EAS AF: 0.586

Gnomad SAS AF: 0.571

Gnomad FIN AF: 0.429

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.522

Gnomad OTH AF: 0.497

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

GnomAD4 genome AF: 0.489 AC: 74371 AN: 152084 Hom.: 18566 Cov.: 33 AF XY: 0.486 AC XY: 36153 AN XY: 74348

African (AFR) AF: 0.446 AC: 18510 AN: 41478

American (AMR) AF: 0.397 AC: 6058 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.628 AC: 2180 AN: 3470

East Asian (EAS) AF: 0.586 AC: 3038 AN: 5182

South Asian (SAS) AF: 0.572 AC: 2761 AN: 4824

European-Finnish (FIN) AF: 0.429 AC: 4535 AN: 10562

Middle Eastern (MID) AF: 0.582 AC: 171 AN: 294

European-Non Finnish (NFE) AF: 0.522 AC: 35480 AN: 67990

Other (OTH) AF: 0.497 AC: 1049 AN: 2110

Alfa AF: 0.509 Hom.: 63164

Bravo AF: 0.484

Asia WGS AF: 0.549 AC: 1915 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.1
DANN	Benign	0.35
PhyloP100		0.36

Splicing

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

Other links and lift over

dbSNP: rs7792547; hg19: chr7-151123529;