rs2335306

Variant names:

• chr16-32446347-T-A
• rs2335306

Your query was ambiguous. Multiple possible variants found:

• chr16-32446347-T-A
• chr16-32446347-T-C

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 0.0092 (1 hom., cov: 30)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.666
• 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=-1.02).

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.00917 AC: 999 AN: 108964 Hom.: 1 Cov.: 30

Gnomad AFR AF: 0.0120

Gnomad AMI AF: 0.00147

Gnomad AMR AF: 0.00889

Gnomad ASJ AF: 0.00510

Gnomad EAS AF: 0.0175

Gnomad SAS AF: 0.0115

Gnomad FIN AF: 0.0162

Gnomad MID AF: 0.0156

Gnomad NFE AF: 0.00627

Gnomad OTH AF: 0.0104

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: 0.00917 AC: 1000 AN: 109062 Hom.: 1 Cov.: 30 AF XY: 0.00958 AC XY: 513 AN XY: 53522

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

African (AFR) AF: 0.0120 AC: 333 AN: 27720

American (AMR) AF: 0.00897 AC: 97 AN: 10816

Ashkenazi Jewish (ASJ) AF: 0.00510 AC: 14 AN: 2746

East Asian (EAS) AF: 0.0172 AC: 59 AN: 3422

South Asian (SAS) AF: 0.0118 AC: 39 AN: 3318

European-Finnish (FIN) AF: 0.0162 AC: 116 AN: 7162

Middle Eastern (MID) AF: 0.0108 AC: 2 AN: 186

European-Non Finnish (NFE) AF: 0.00627 AC: 323 AN: 51550

Other (OTH) AF: 0.0109 AC: 16 AN: 1464

⚠️ 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: 0.109 Hom.: 1

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.88
DANN	Benign	0.28
PhyloP100		-0.67

Splicing

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

Other links and lift over

dbSNP: rs2335306; hg19: chr16-32457668;