rs495795

chr22-12200388-G-Achr22-12200388-G-C

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

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 0.020 (0 hom., cov: 74)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0640

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (Cadd=6.708).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.00 AC: 2351 AN: 120128 Hom.: 0 Cov.: 74 FAILED QC

Gnomad AFR AF: 0.0128

Gnomad AMI AF: 0.0125

Gnomad AMR AF: 0.0223

Gnomad ASJ AF: 0.0273

Gnomad EAS AF: 0.0636

Gnomad SAS AF: 0.0297

Gnomad FIN AF: 0.0201

Gnomad MID AF: 0.0536

Gnomad NFE AF: 0.0192

Gnomad OTH AF: 0.0203

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0195 AC: 2348 AN: 120234 Hom.: 0 Cov.: 74 AF XY: 0.0203 AC XY: 1196 AN XY: 58908

Gnomad4 AFR AF: 0.0128

Gnomad4 AMR AF: 0.0226

Gnomad4 ASJ AF: 0.0273

Gnomad4 EAS AF: 0.0637

Gnomad4 SAS AF: 0.0292

Gnomad4 FIN AF: 0.0201

Gnomad4 NFE AF: 0.0191

Gnomad4 OTH AF: 0.0208

Alfa AF: 0.0524 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
Cadd	Benign	6.7

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs495795; hg19: -;