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Features of the reported variant
| |
|---|
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Gene symbol
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ESRRB
|
|
Locus
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DFNB35
|
|
Nucleotide acid change
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c.499G>A
|
|
Ref SNP Id
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rs1555342141
|
|
Protein change
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p.G167R
|
|
Domain
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DBD
|
|
Co-segregation
|
Yes
|
|
Frequency in the control population of this study
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0.000
|
|
ACMG/AMP criteria
|
PM5, PM1, PM2, PP1, PP3
|
| |
Variant pathogenicity prediction
|
|---|
|
Web servers
|
Values
|
|---|
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Pathogenicity
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PolyPhen2
|
Probably damaging (0.997)
|
|
SIFT
|
Deleterious (0.0)
|
|
FATHMM
|
Damaging (− 6.21)
|
|
MutationAssessor
|
High (3.65)
|
|
MutationTaster
|
Disease-causing (1.000)
|
|
LOFtool
|
Probably damaging (0.193)
|
|
MetaSVM
|
Deleterious (0.911)
|
|
LRT
|
Deleterious (0.62918)
|
|
GERP++
|
Damaging (5.12)
|
|
MAF
|
1000 Genomes
|
0.000
|
|
ESP
|
0.000
|
|
ExAC
|
0.000
|
|
Conservation
|
UniProtKB/UniRef100
|
Yes
|
|
Protein stability
|
SDM
|
Destabilizing
|
|
MAESTROweb
|
Destabilizing
|
- The Polymorphism phenotyping v2 (PolyPhen-2) scores range from 0.0 (tolerated) to 1.0 (deleterious). The Sorting Intolerant from Tolerant (SIFT) values range from 0 to 1. The variant is predicted damaging if the score is ≤ 0.05, and tolerated if the score is > 0.05. The Functional Analysis through Hidden Markov Models (FATHMM) scores range from − 16.13 to 10.64. The smaller the score the more likely the variant has a damaging effect. If a FATHMM score is ≤ − 1.5 the corresponding variant is predicted as "D(AMAGING)"; on the contrary, it is predicted as "T(OLERATED)". MutationAssessor scores range from 5.135 to 6.49. MutationAssessor's functional impact of a variant: predicted functional, i.e. high ("H") or medium ("M"), or predicted non-functional, i.e. low ("L") or neutral ("N"). MutationTaster score ranges from 0 to 1 and a larger score means more likely to be deleterious. MutationTaster predictions are "A" ("disease_causing_automatic"), "D" ("disease_causing"), "N" ("polymorphism") or "P" ("polymorphism_automatic"). The Loss-of-function (LOF) tool scores < 0.7 are considered benign, scores < 0.2 are considered probably damaging and a score of 0.2 to 0.7 are possibly damaging. The Meta Support Vector Machine (MetaSVM) score ranges from − 2 to 3 and the larger scores indicate the variant is more likely to be damaging. The likelihood ratio test (LRT) ranges from 0 to 1 and the LRT predictions are D(eleterious), N(eutral), or U(nknown). Genomic Evolutionary Rate Profiling (tmGERP)++ scores range from − 12.3 to 6.71, where a larger score indicates deleterious variation. ACMG/AMP, American College of Medical Genetics and Genomics/Association for Molecular Pathology; MAF, Minor Allele Frequency; ESP, Exome Sequencing Project; ExAC, Exome Aggregation Consortium; SDM, Site Directed Mutator; SNP, Single Nucleotide Polymorphism
