rs7791434

Variant names:

• chr7-24455586-T-G
• rs7791434

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.442

Gnomad4 AMR AF: 0.263

Gnomad4 ASJ AF: 0.299

Gnomad4 EAS AF: 0.334

Gnomad4 SAS AF: 0.317

Gnomad4 FIN AF: 0.265

Gnomad4 NFE AF: 0.253

Gnomad4 OTH AF: 0.265

Alfa AF: 0.277 Hom.: 2947

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7791434; hg19: chr7-24495205;