chr7-134475243-G-A

Variant names:

• chr7-134475243-G-A
• rs4728326

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 0.229 in 151,956 control chromosomes in the GnomAD database, including 5,134 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 0.23 (5134 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.335
• Publications: 1 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 (EAS) allele frequency at 95% confidence interval = 0.358 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.229 AC: 34796 AN: 151836 Hom.: 5130 Cov.: 31

Gnomad AFR AF: 0.0593

Gnomad AMI AF: 0.180

Gnomad AMR AF: 0.356

Gnomad ASJ AF: 0.257

Gnomad EAS AF: 0.372

Gnomad SAS AF: 0.208

Gnomad FIN AF: 0.404

Gnomad MID AF: 0.142

Gnomad NFE AF: 0.267

Gnomad OTH AF: 0.234

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

GnomAD4 genome AF: 0.229 AC: 34812 AN: 151956 Hom.: 5134 Cov.: 31 AF XY: 0.237 AC XY: 17618 AN XY: 74236

African (AFR) AF: 0.0592 AC: 2457 AN: 41506

American (AMR) AF: 0.357 AC: 5445 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.257 AC: 890 AN: 3468

East Asian (EAS) AF: 0.372 AC: 1913 AN: 5138

South Asian (SAS) AF: 0.208 AC: 1002 AN: 4820

European-Finnish (FIN) AF: 0.404 AC: 4250 AN: 10514

Middle Eastern (MID) AF: 0.136 AC: 40 AN: 294

European-Non Finnish (NFE) AF: 0.267 AC: 18155 AN: 67934

Other (OTH) AF: 0.235 AC: 497 AN: 2112

Alfa AF: 0.261 Hom.: 908

Bravo AF: 0.219

Asia WGS AF: 0.281 AC: 978 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	8.9
DANN	Benign	0.59
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs4728326; hg19: chr7-134159995;