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.61G>T (p.Ala21Ser)

CA290780

137240 (ClinVar)

Gene: ETHE1
Condition: ethylmalonic encephalopathy
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 24885ccf-9898-4dd2-9697-2788635e2099
Approved on: 2021-05-06
Published on: 2021-05-06

HGVS expressions

NM_014297.5:c.61G>T
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser)
ENST00000292147.7:c.61G>T
ENST00000292147.6:c.61G>T
ENST00000458714.2:c.135+491C>A
ENST00000594342.5:c.61G>T
ENST00000595115.1:n.114G>T
ENST00000598330.1:c.61G>T
ENST00000600651.5:c.61G>T
ENST00000602138.1:c.61G>T
NM_014297.3:c.61G>T
NM_001320867.1:c.61G>T
NM_001320868.1:c.-160G>T
NM_001320869.1:c.61G>T
NM_014297.4:c.61G>T
NM_001320867.2:c.61G>T
NM_001320868.2:c.-160G>T
NM_001320869.2:c.61G>T
NC_000019.10:g.43527117C>A
CM000681.2:g.43527117C>A
NC_000019.9:g.44031269C>A
CM000681.1:g.44031269C>A
NC_000019.8:g.48723109C>A
NG_008141.1:g.5128G>T
More

Benign

Met criteria codes 2
BA1 BS2
Not Met criteria codes 12
PS3 PS1 PS2 PP4 PP3 PM5 PM6 PM2 PVS1 BS3 BP4 BP5

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The allele frequency of the c.61G>T variant in the ETHE1 gene is 0.7% in gnomAD, including 33 homozygotes which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen ETHE1 Variant Curation Expert Panel (>0.1% in gnomAD- BA1 and BS2). In summary, this variant meets criteria to be classified as benign for ETHE1-related ethylmalonic encephalopathy. ETHE1 specific ACMG/AMP criteria applied: (BA1, BS2). This was reviewed with the ETHE1 expert panel on 2/23/2021 and approved on 2/23/2021.
Met criteria codes
BA1
AF of 0.007 which is >0.001 in gnomAD 2/22/2021
BS2
33 unaffected homozygotes in gnomAD
Not Met criteria codes
PS3
No biochemical studies performed to date
PS1
No other mutations reported in amino acid position 21
PS2
No cases to report
PP4
No cases of ETHE1 with c.61G>T
PP3
REVEL score is 0.211 which is < than threshold of 0.75
PM5
No other mutations reported in amino acid position 21
PM6
No cases to report
PM2
Present in gnomAD at AF 0.007
PVS1
This is a missense mutation
BS3
No biochemical studies performed to date
BP4
REVEL score is 0.211 which is > than threshold of 0.15
BP5
No such case
Curation History
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