rs10220947

Variant names:

• chr16-33037776-C-G
• rs10220947

Variant summary

Our verdict is Likely benign. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

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

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.0102 AC: 930 AN: 91214 Hom.: 0 Cov.: 36

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

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.00885 AC: 243 AN: 27470

American (AMR) AF: 0.0113 AC: 104 AN: 9212

Ashkenazi Jewish (ASJ) AF: 0.0113 AC: 21 AN: 1864

East Asian (EAS) AF: 0.00583 AC: 21 AN: 3602

South Asian (SAS) AF: 0.00732 AC: 23 AN: 3144

European-Finnish (FIN) AF: 0.0146 AC: 92 AN: 6310

Middle Eastern (MID) AF: 0.00909 AC: 2 AN: 220

European-Non Finnish (NFE) AF: 0.0105 AC: 395 AN: 37688

Other (OTH) AF: 0.0154 AC: 20 AN: 1298

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.0565 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	6.0
DANN	Benign	0.38
PhyloP100		0.28

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs10220947;

hg19: chr16-33049097;