NM_001966.4(EHHADH):c.2100dup (p.Leu701fs) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 18, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003388460.1

Allele description [Variation Report for NM_001966.4(EHHADH):c.2100dup (p.Leu701fs)]

NM_001966.4(EHHADH):c.2100dup (p.Leu701fs)

Gene:

EHHADH:enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q27.2

Genomic location:

Preferred name:

NM_001966.4(EHHADH):c.2100dup (p.Leu701fs)

HGVS:

NC_000003.12:g.185192304dup
NG_015999.1:g.66801dup
NM_001166415.2:c.1812dup
NM_001966.4:c.2100dupMANE SELECT
NP_001159887.1:p.Leu605fs
NP_001957.2:p.Leu701fs
NC_000003.11:g.184910092dup
NM_001966.3:c.2100dupA

Protein change:

L605fs

Molecular consequence:

NM_001166415.2:c.1812dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001966.4:c.2100dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004099948	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004099948

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 18, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004099948.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Variant summary: EHHADH c.2100dupA (p.Leu701ThrfsX20) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, however current evidence is not sufficient to establish loss-of-function variants in EHHADH as causative of disease. The variant allele was found at a frequency of 0.00012 in 250948 control chromosomes. To our knowledge, no occurrence of c.2100dupA in individuals affected with Fanconi Renotubular Syndrome 3 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 4, 2023

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