rs7795288

chr7-44783925-C-Achr7-44783925-C-Gchr7-44783925-C-T

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 0.343 in 151,996 control chromosomes in the GnomAD database, including 12,188 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 0.34 (12188 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.225

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.746 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.343 AC: 52081 AN: 151876 Hom.: 12165 Cov.: 31

Gnomad AFR AF: 0.599

Gnomad AMI AF: 0.275

Gnomad AMR AF: 0.399

Gnomad ASJ AF: 0.193

Gnomad EAS AF: 0.766

Gnomad SAS AF: 0.402

Gnomad FIN AF: 0.138

Gnomad MID AF: 0.264

Gnomad NFE AF: 0.180

Gnomad OTH AF: 0.321

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

GnomAD4 genome AF: 0.343 AC: 52156 AN: 151996 Hom.: 12188 Cov.: 31 AF XY: 0.347 AC XY: 25797 AN XY: 74322

Gnomad4 AFR AF: 0.599

Gnomad4 AMR AF: 0.400

Gnomad4 ASJ AF: 0.193

Gnomad4 EAS AF: 0.766

Gnomad4 SAS AF: 0.402

Gnomad4 FIN AF: 0.138

Gnomad4 NFE AF: 0.180

Gnomad4 OTH AF: 0.322

Alfa AF: 0.139 Hom.: 2643

Bravo AF: 0.374

Asia WGS AF: 0.549 AC: 1910 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	1.4
Dann	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7795288; hg19: chr7-44823524;