Evidence Repository - Clinical Genome Resources

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

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Variant: NM_014297.5(ETHE1):c.227-9C>G

CA290777

137237 (ClinVar)

Gene: ETHE1

Condition: ethylmalonic encephalopathy

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 4db36d7b-46e4-451c-950f-8ec639d290e9

Approved on: 2021-07-27

Published on: 2021-07-27

HGVS expressions

NM_014297.5:c.227-9C>G

NM_014297.5(ETHE1):c.227-9C>G

NC_000019.10:g.43526358G>C

CM000681.2:g.43526358G>C

NC_000019.9:g.44030510G>C

CM000681.1:g.44030510G>C

NC_000019.8:g.48722350G>C

NG_008141.1:g.5887C>G

ENST00000292147.7:c.227-9C>G

ENST00000292147.6:c.227-9C>G

ENST00000458714.2:c.-65-69G>C

ENST00000594342.5:c.226+157C>G

ENST00000595115.1:n.436C>G

ENST00000598330.1:c.226+157C>G

ENST00000600651.5:c.227-9C>G

ENST00000602138.1:c.*231-9C>G

NM_014297.3:c.227-9C>G

NM_001320867.1:c.227-42C>G

NM_001320868.1:c.6+157C>G

NM_001320869.1:c.81+739C>G

NM_014297.4:c.227-9C>G

NM_001320867.2:c.227-42C>G

NM_001320868.2:c.6+157C>G

NM_001320869.2:c.81+739C>G

Benign

BA1

PM6 PM2 PM3 BS2 PVS1 PS2 PP1 PP4

Evidence Links 0

Expert Panel

Mitochondrial Diseases VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Mitochondrial Diseases VCEP

The c.227-9C>G (NM_014297.5) variant in ETHE1 is an intronic variant which is located in intron 2 (intron 2/6). The highest population minor allele frequency for the c.227-9C>G in gnomAD v2.1.1 is 0.00321 (905/282370 alleles, no homozygotes) in the general population, which is higher than the ClinGen ETHE1 threshold >0.001 for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as benign, and therefore not causative of Autosomal Recessive Ethylmalonic Encephalopathy. ACMG/AMP criteria applied, as specified by the ClinGen ETHE1 VCEP (version 1.0): BA1. Approved 7/6/2021.

BA1

Seen in 905 alleles in gnomAD, no homozygotes. AF is 0.00321 which exceeds threshold of >0.001

PM6

No cases reported to date

PM2

Present in gnomAD in 905 alleles, no homozygotes

PM3

No such cases reported

BS2

No homozygotes reported

PVS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PS2

No cases reported to date

PP1

No cases reported to date

PP4

No cases reported to date with this variant

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