rs1435194

Variant names:

• chr5-106117656-C-A
• rs1435194

Your query was ambiguous. Multiple possible variants found:

• chr5-106117656-C-A
• chr5-106117656-C-G
• chr5-106117656-C-T

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 0.202 in 152,126 control chromosomes in the GnomAD database, including 3,694 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 0.20 (3694 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.581
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.391 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: 0.202 AC: 30675 AN: 152010 Hom.: 3689 Cov.: 33

Gnomad AFR AF: 0.0798

Gnomad AMI AF: 0.0384

Gnomad AMR AF: 0.287

Gnomad ASJ AF: 0.226

Gnomad EAS AF: 0.405

Gnomad SAS AF: 0.364

Gnomad FIN AF: 0.275

Gnomad MID AF: 0.212

Gnomad NFE AF: 0.219

Gnomad OTH AF: 0.210

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

GnomAD4 genome AF: 0.202 AC: 30692 AN: 152126 Hom.: 3694 Cov.: 33 AF XY: 0.209 AC XY: 15502 AN XY: 74344

African (AFR) AF: 0.0798 AC: 3316 AN: 41532

American (AMR) AF: 0.288 AC: 4402 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.226 AC: 785 AN: 3468

East Asian (EAS) AF: 0.405 AC: 2089 AN: 5154

South Asian (SAS) AF: 0.364 AC: 1753 AN: 4822

European-Finnish (FIN) AF: 0.275 AC: 2906 AN: 10562

Middle Eastern (MID) AF: 0.202 AC: 59 AN: 292

European-Non Finnish (NFE) AF: 0.219 AC: 14899 AN: 67992

Other (OTH) AF: 0.212 AC: 448 AN: 2110

Alfa AF: 0.216 Hom.: 16200

Bravo AF: 0.195

Asia WGS AF: 0.337 AC: 1175 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	0.52
DANN	Benign	0.24
PhyloP100		-0.58

Splicing

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

Other links and lift over

dbSNP: rs1435194; hg19: chr5-105453357;