7-155935498-A-G

Variant names:

• chr7-155935498-A-G
• rs4716934

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 0.721 in 152,226 control chromosomes in the GnomAD database, including 44,014 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 0.72 (44014 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.339
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.941 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: 0.721 AC: 109662 AN: 152108 Hom.: 44001 Cov.: 33

Gnomad AFR AF: 0.332

Gnomad AMI AF: 0.828

Gnomad AMR AF: 0.847

Gnomad ASJ AF: 0.775

Gnomad EAS AF: 0.964

Gnomad SAS AF: 0.870

Gnomad FIN AF: 0.864

Gnomad MID AF: 0.693

Gnomad NFE AF: 0.872

Gnomad OTH AF: 0.754

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

GnomAD4 genome AF: 0.721 AC: 109707 AN: 152226 Hom.: 44014 Cov.: 33 AF XY: 0.730 AC XY: 54312 AN XY: 74436

African (AFR) AF: 0.332 AC: 13795 AN: 41506

American (AMR) AF: 0.847 AC: 12974 AN: 15312

Ashkenazi Jewish (ASJ) AF: 0.775 AC: 2690 AN: 3472

East Asian (EAS) AF: 0.963 AC: 4989 AN: 5178

South Asian (SAS) AF: 0.872 AC: 4206 AN: 4826

European-Finnish (FIN) AF: 0.864 AC: 9167 AN: 10606

Middle Eastern (MID) AF: 0.687 AC: 202 AN: 294

European-Non Finnish (NFE) AF: 0.872 AC: 59336 AN: 68012

Other (OTH) AF: 0.756 AC: 1593 AN: 2108

Alfa AF: 0.825 Hom.: 88885

Bravo AF: 0.704

Asia WGS AF: 0.873 AC: 3037 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	2.7
DANN	Benign	0.58
PhyloP100		-0.34

Splicing

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

Other links and lift over

dbSNP: rs4716934; hg19: chr7-155728192;