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NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) AND Glutaric acidemia type 2C

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 2, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001831952.9

Allele description [Variation Report for NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)]

NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)

Gene:
ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
HGVS:
  • NC_000004.12:g.158680511C>T
  • NG_007078.2:g.13170C>T
  • NM_001281737.2:c.35-1684C>T
  • NM_004453.4:c.79C>TMANE SELECT
  • NP_004444.2:p.Pro27Ser
  • NP_004444.2:p.Pro27Ser
  • NC_000004.11:g.159601663C>T
  • NM_004453.2:c.79C>T
  • NM_004453.3:c.79C>T
Protein change:
P27S
Links:
dbSNP: rs537038850
NCBI 1000 Genomes Browser:
rs537038850
Molecular consequence:
  • NM_001281737.2:c.35-1684C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004453.4:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glutaric acidemia type 2C
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002084834Natera, Inc.
no assertion criteria provided
Likely pathogenic
(Mar 2, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002084834.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024