rs10220947

Positions:

• chr16-33037776-C-G

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 0.010 (0 hom., cov: 36)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.282

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).

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: 0.00 AC: 930 AN: 91214 Hom.: 0 Cov.: 36 FAILED QC

Gnomad AFR AF: 0.00888

Gnomad AMI AF: 0.0178

Gnomad AMR AF: 0.0113

Gnomad ASJ AF: 0.0113

Gnomad EAS AF: 0.00582

Gnomad SAS AF: 0.00733

Gnomad FIN AF: 0.0146

Gnomad MID AF: 0.00855

Gnomad NFE AF: 0.0105

Gnomad OTH AF: 0.0156

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: 0.0102 AC: 930 AN: 91314 Hom.: 0 Cov.: 36 AF XY: 0.0109 AC XY: 489 AN XY: 44704

Gnomad4 AFR AF: 0.00885

Gnomad4 AMR AF: 0.0113

Gnomad4 ASJ AF: 0.0113

Gnomad4 EAS AF: 0.00583

Gnomad4 SAS AF: 0.00732

Gnomad4 FIN AF: 0.0146

Gnomad4 NFE AF: 0.0105

Gnomad4 OTH AF: 0.0154

Alfa AF: 0.0565 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	6.0
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10220947; hg19: chr16-33049097;