rs35774195

Variant names:

• chr12-68254535-CAT-C
• rs35774195

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.51 (20277 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.15

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.575 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: 0.513 AC: 77388 AN: 150924 Hom.: 20274 Cov.: 0

Gnomad AFR AF: 0.424

Gnomad AMI AF: 0.547

Gnomad AMR AF: 0.516

Gnomad ASJ AF: 0.430

Gnomad EAS AF: 0.481

Gnomad SAS AF: 0.386

Gnomad FIN AF: 0.533

Gnomad MID AF: 0.382

Gnomad NFE AF: 0.580

Gnomad OTH AF: 0.479

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

GnomAD4 genome AF: 0.513 AC: 77412 AN: 151030 Hom.: 20277 Cov.: 0 AF XY: 0.509 AC XY: 37581 AN XY: 73764

Gnomad4 AFR AF: 0.424

Gnomad4 AMR AF: 0.516

Gnomad4 ASJ AF: 0.430

Gnomad4 EAS AF: 0.481

Gnomad4 SAS AF: 0.386

Gnomad4 FIN AF: 0.533

Gnomad4 NFE AF: 0.580

Gnomad4 OTH AF: 0.473

Alfa AF: 0.543 Hom.: 2347

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs35774195; hg19: chr12-68648315;