rs7791434

Variant names:

• chr7-24455586-T-G
• rs7791434

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 0.311 in 152,038 control chromosomes in the GnomAD database, including 7,882 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 0.31 (7882 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.02
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.436 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: 0.311 AC: 47251 AN: 151920 Hom.: 7857 Cov.: 32

Gnomad AFR AF: 0.441

Gnomad AMI AF: 0.0615

Gnomad AMR AF: 0.262

Gnomad ASJ AF: 0.299

Gnomad EAS AF: 0.334

Gnomad SAS AF: 0.317

Gnomad FIN AF: 0.265

Gnomad MID AF: 0.244

Gnomad NFE AF: 0.253

Gnomad OTH AF: 0.268

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

GnomAD4 genome AF: 0.311 AC: 47311 AN: 152038 Hom.: 7882 Cov.: 32 AF XY: 0.310 AC XY: 23010 AN XY: 74310

African (AFR) AF: 0.442 AC: 18298 AN: 41426

American (AMR) AF: 0.263 AC: 4013 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.299 AC: 1039 AN: 3470

East Asian (EAS) AF: 0.334 AC: 1729 AN: 5178

South Asian (SAS) AF: 0.317 AC: 1528 AN: 4818

European-Finnish (FIN) AF: 0.265 AC: 2805 AN: 10594

Middle Eastern (MID) AF: 0.224 AC: 66 AN: 294

European-Non Finnish (NFE) AF: 0.253 AC: 17217 AN: 67954

Other (OTH) AF: 0.265 AC: 560 AN: 2112

Alfa AF: 0.278 Hom.: 3298

Bravo AF: 0.314

Asia WGS AF: 0.316 AC: 1098 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.031
DANN	Benign	0.54
PhyloP100		-2.0

Splicing

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

Other links and lift over

dbSNP: rs7791434; hg19: chr7-24495205;