rs7725447

Variant names:

• chr5-136070845-A-G
• rs7725447

Your query was ambiguous. Multiple possible variants found:

• chr5-136070845-A-G
• chr5-136070845-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 0.588 in 152,022 control chromosomes in the GnomAD database, including 26,770 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 0.59 (26770 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.55
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) 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: 0.588 AC: 89377 AN: 151904 Hom.: 26761 Cov.: 32

Gnomad AFR AF: 0.450

Gnomad AMI AF: 0.678

Gnomad AMR AF: 0.683

Gnomad ASJ AF: 0.583

Gnomad EAS AF: 0.595

Gnomad SAS AF: 0.549

Gnomad FIN AF: 0.657

Gnomad MID AF: 0.642

Gnomad NFE AF: 0.641

Gnomad OTH AF: 0.605

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

GnomAD4 genome AF: 0.588 AC: 89432 AN: 152022 Hom.: 26770 Cov.: 32 AF XY: 0.592 AC XY: 43991 AN XY: 74312

African (AFR) AF: 0.450 AC: 18653 AN: 41448

American (AMR) AF: 0.683 AC: 10438 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.583 AC: 2023 AN: 3470

East Asian (EAS) AF: 0.594 AC: 3066 AN: 5160

South Asian (SAS) AF: 0.549 AC: 2647 AN: 4822

European-Finnish (FIN) AF: 0.657 AC: 6947 AN: 10578

Middle Eastern (MID) AF: 0.616 AC: 181 AN: 294

European-Non Finnish (NFE) AF: 0.641 AC: 43584 AN: 67956

Other (OTH) AF: 0.605 AC: 1277 AN: 2112

Alfa AF: 0.627 Hom.: 19023

Bravo AF: 0.587

Asia WGS AF: 0.581 AC: 2026 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.36
DANN	Benign	0.73
PhyloP100		-2.5

Splicing

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

Other links and lift over

dbSNP: rs7725447; hg19: chr5-135406534;