rs7357405

Variant names:

• chr8-78108465-G-A
• rs7357405

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 0.505 in 152,000 control chromosomes in the GnomAD database, including 20,095 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 0.50 (20095 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.846

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.64 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: 0.505 AC: 76625 AN: 151882 Hom.: 20059 Cov.: 33

Gnomad AFR AF: 0.646

Gnomad AMI AF: 0.443

Gnomad AMR AF: 0.374

Gnomad ASJ AF: 0.531

Gnomad EAS AF: 0.321

Gnomad SAS AF: 0.487

Gnomad FIN AF: 0.434

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.474

Gnomad OTH AF: 0.500

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

GnomAD4 genome AF: 0.505 AC: 76712 AN: 152000 Hom.: 20095 Cov.: 33 AF XY: 0.497 AC XY: 36922 AN XY: 74310

Gnomad4 AFR AF: 0.646

Gnomad4 AMR AF: 0.374

Gnomad4 ASJ AF: 0.531

Gnomad4 EAS AF: 0.320

Gnomad4 SAS AF: 0.486

Gnomad4 FIN AF: 0.434

Gnomad4 NFE AF: 0.474

Gnomad4 OTH AF: 0.503

Alfa AF: 0.488 Hom.: 3930

Bravo AF: 0.502

Asia WGS AF: 0.479 AC: 1668 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.27
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7357405; hg19: chr8-79020700;