NM_001966.4(EHHADH):c.1603A>G (p.Lys535Glu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 1, 2024
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:: RCV004598255.2

Allele description

NM_001966.4(EHHADH):c.1603A>G (p.Lys535Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.2

Genomic location:

Preferred name:

NM_001966.4(EHHADH):c.1603A>G (p.Lys535Glu)

HGVS:

NC_000003.12:g.185192795T>C
NG_015999.1:g.66304A>G
NM_001166415.2:c.1315A>G
NM_001966.4:c.1603A>GMANE SELECT
NP_001159887.1:p.Lys439Glu
NP_001957.2:p.Lys535Glu
NC_000003.11:g.184910583T>C
NM_001966.3:c.1603A>G

Protein change:

K439E

Molecular consequence:

NM_001166415.2:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001966.4:c.1603A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Kocuria sp. CAR-red 16S ribosomal RNA gene, partial sequence
Kocuria sp. CAR-red 16S ribosomal RNA gene, partial sequence
gi|197717663|gb|EU981823.1|

Nucleotide
Salegentibacter sp. CAR-8049 16S ribosomal RNA gene, partial sequence
Salegentibacter sp. CAR-8049 16S ribosomal RNA gene, partial sequence
gi|197717661|gb|EU981821.1|

Nucleotide
Sulfitobacter sp. CAR-8043 16S ribosomal RNA gene, partial sequence
Sulfitobacter sp. CAR-8043 16S ribosomal RNA gene, partial sequence
gi|197717658|gb|EU981818.1|

Nucleotide
zu71h01.s1 Soares_testis_NHT Homo sapiens cDNA clone IMAGE:743473 3', mRNA seque...
zu71h01.s1 Soares_testis_NHT Homo sapiens cDNA clone IMAGE:743473 3', mRNA sequence
gi|2457819|gnl|dbEST|1307092|gb|AA6 .1|

Nucleotide
Dikarya 26S ribosomal RNA gene, partial sequence.
Dikarya 26S ribosomal RNA gene, partial sequence.
PopSet: 162285974

PopSet

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005092514	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jul 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005092514

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jul 1, 2024)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV005092514.2

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

Description

EHHADH: BP4

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine