rs35774195

Positions:

• chr12-68254535-CAT-C

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;