Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • See Evidence submitted by expert panel for details.

Variant: NM_014297.5(ETHE1):c.*55G>T

CA10652049

329439 (ClinVar)

Gene: ETHE1
Condition: ethylmalonic encephalopathy
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: c5eaeb3f-db05-43a3-9681-9a08c01cfbf7
Approved on: 2020-08-18
Published on: 2021-10-22

HGVS expressions

NM_014297.5:c.*55G>T
NM_014297.5(ETHE1):c.*55G>T
NC_000019.10:g.43506795C>A
CM000681.2:g.43506795C>A
NC_000019.9:g.44010947C>A
CM000681.1:g.44010947C>A
NC_000019.8:g.48702787C>A
NG_008141.1:g.25450G>T
ENST00000292147.7:c.*55G>T
ENST00000292147.6:c.*55G>T
ENST00000594342.5:c.*383G>T
NM_014297.3:c.*55G>T
NM_001320867.1:c.*55G>T
NM_001320868.1:c.*55G>T
NM_001320869.1:c.*55G>T
NM_014297.4:c.*55G>T
NM_001320867.2:c.*55G>T
NM_001320868.2:c.*55G>T
NM_001320869.2:c.*55G>T
More

Benign

Met criteria codes 2
BA1 BS2
Not Met criteria codes 13
PM3 PM5 BS4 BS3 BP5 BP2 BP4 PS4 PS3 PS1 PP4 PP1 PP3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The filtering allele frequency of the c.55G>T variant in the ETHE1 gene is >0.7% by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Mito Variant Curation Expert Panel (BA1)
Met criteria codes
BA1
Allele frequency reported as 0.00716 as per ExAC which is than the cutoff proposed for ETHE1 variants of 0.001
BS2
Homozygote reported in gnomAD
Not Met criteria codes
PM3
This variant has not been reported in an affected or unaffected individual
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
This variant has not been reported in an affected or unaffected individual
BS3
No published functional studies demonstrating effect/no effect on protein function or splicing
BP5
This variant has not been reported in an affected or unaffected individual
BP2
This variant has not been reported in an affected or unaffected individual
BP4
No computational evidence to support pathogenicity or benign effect on gene or gene product
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No published functional studies demonstrating effect/no effect on protein function or splicing
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
This variant has not been reported in an affected or unaffected individual
PP1
This variant has not been reported in an affected or unaffected individual
PP3
No computational evidence to support pathogenicity or benign effect on gene or gene product
Curation History
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