rs10485715

chr20-7279278-T-C

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 0.0538 in 152,226 control chromosomes in the GnomAD database, including 611 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 0.054 (611 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.364

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.164 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: 0.0538 AC: 8178 AN: 152108 Hom.: 612 Cov.: 33

Gnomad AFR AF: 0.167

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0259

Gnomad ASJ AF: 0.00749

Gnomad EAS AF: 0.0716

Gnomad SAS AF: 0.0261

Gnomad FIN AF: 0.00442

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.00276

Gnomad OTH AF: 0.0454

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

GnomAD4 genome AF: 0.0538 AC: 8190 AN: 152226 Hom.: 611 Cov.: 33 AF XY: 0.0531 AC XY: 3955 AN XY: 74420

Gnomad4 AFR AF: 0.167

Gnomad4 AMR AF: 0.0258

Gnomad4 ASJ AF: 0.00749

Gnomad4 EAS AF: 0.0716

Gnomad4 SAS AF: 0.0263

Gnomad4 FIN AF: 0.00442

Gnomad4 NFE AF: 0.00273

Gnomad4 OTH AF: 0.0449

Alfa AF: 0.0111 Hom.: 92

Bravo AF: 0.0609

Asia WGS AF: 0.0630 AC: 222 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
Cadd	Benign	6.4
Dann	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10485715; hg19: chr20-7259925;