rs35991105

Variant names:

• chr8-53252778-C-T
• rs35991105

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 0.0452 in 150,968 control chromosomes in the GnomAD database, including 177 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 0.045 (177 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0630

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0639 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: 0.0452 AC: 6817 AN: 150846 Hom.: 177 Cov.: 32

Gnomad AFR AF: 0.0659

Gnomad AMI AF: 0.0264

Gnomad AMR AF: 0.0286

Gnomad ASJ AF: 0.0228

Gnomad EAS AF: 0.000386

Gnomad SAS AF: 0.0335

Gnomad FIN AF: 0.0188

Gnomad MID AF: 0.0382

Gnomad NFE AF: 0.0462

Gnomad OTH AF: 0.0399

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

GnomAD4 genome AF: 0.0452 AC: 6819 AN: 150968 Hom.: 177 Cov.: 32 AF XY: 0.0431 AC XY: 3187 AN XY: 73870

Gnomad4 AFR AF: 0.0659

Gnomad4 AMR AF: 0.0286

Gnomad4 ASJ AF: 0.0228

Gnomad4 EAS AF: 0.000387

Gnomad4 SAS AF: 0.0331

Gnomad4 FIN AF: 0.0188

Gnomad4 NFE AF: 0.0462

Gnomad4 OTH AF: 0.0390

Alfa AF: 0.0470 Hom.: 23

Bravo AF: 0.0461

Asia WGS AF: 0.0220 AC: 76 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	2.6
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs35991105; hg19: chr8-54165338;