Interpret Structure Variant

You searched SV by single model with genomic version: hg19 and chr1:2641431-29746184 del

Interpretation result of your SV: chr1:2641431-29746184 del

 Section 1: Initial assessment of genomic content

This section is to check the variant content
1A. Contains 346 protein-coding genes or other known functionally important elements. score 0

  Section 2: Overlap with HaploInsufficiency, TriploSensitive, or benign genes/regions

This section is to check Overlap with ESTABLISHED/predicted HI/TS genes or genomic regions and consideration of reason for referral

2A. This variant overlap of an established HI gene/region,totaly 6 gene found, score 1.0 .
2H. Two or more HI predictors suggest that some gene (total 14 ) in this variant is HI, score 0.15

 Section 3: Evaluation of gene number

This section is to check Number of protein-coding RefSeq genes wholly or partially included in the variation.

3C. 35+ protein-coding RefSeq genes wholly or partially included in the variant; score 0.90

  Section 4: Detailed evaluation of genomic content using cases from published literature,public databases

This section is to check Individual case evidence, such as de novo occurrences, inconsistent phenotype,unknown inheritance,segregation and Case-Control population evidences
4O. Overlap with common population variation (with Frequency > 0.1) , score -0.9 (DGV gain: 31 gain variants  DGV loss: 57 loss variants gnomADv2.1.1 SV: 54 del variants )
No user's other specific input.

 Section 5: Evaluation of inheritance patterns/family history for patient being studied

This section is to check the observed variant denovo, inherited,nonsegregations.
No user's input.

  Final interpretation

This section is for final interpretation.

The variant score is 2.05 as ; This variant is located in chromosome chr1 and cytoband p36.32. There are 346 protein-coding gene(s) or known functionally important element(s) wholly or partially included in the variant; It completely overlaps 6 established HI gene(s)/genomic region(s). Multiple HI predictors(pLI and HI index) suggest that 14 gene(s) in the interval may be haploinsufficient(HI).If you have extra information and would like to adjust the interpretatipon, please search it from start on the server: Re-adjust!.

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Please cite:

Quan Li, YunYun Zhou and Kai Wang. InterSV: a web server for evidence-based clinical interpretation of structure variants. (In Preparation,2021)
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