rs35991105

Variant names:

• chr8-53252778-C-T
• rs35991105

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0659 AC: 2732 AN: 41442

American (AMR) AF: 0.0286 AC: 434 AN: 15178

Ashkenazi Jewish (ASJ) AF: 0.0228 AC: 79 AN: 3462

East Asian (EAS) AF: 0.000387 AC: 2 AN: 5168

South Asian (SAS) AF: 0.0331 AC: 159 AN: 4802

European-Finnish (FIN) AF: 0.0188 AC: 198 AN: 10544

Middle Eastern (MID) AF: 0.0340 AC: 10 AN: 294

European-Non Finnish (NFE) AF: 0.0462 AC: 3099 AN: 67068

Other (OTH) AF: 0.0390 AC: 82 AN: 2100

Alfa AF: 0.0489 Hom.: 292

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
PhyloP100		-0.063

Splicing

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

Other links and lift over

dbSNP: rs35991105; hg19: chr8-54165338;