U.S. flag

An official website of the United States government

NM_000182.5(HADHA):c.2175C>T (p.Gly725=) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 16, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000728812.4

Allele description

NM_000182.5(HADHA):c.2175C>T (p.Gly725=)

Genes:
GAREM2:GRB2 associated regulator of MAPK1 subtype 2 [Gene - OMIM - HGNC]
HADHA:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
HGVS:
  • NC_000002.12:g.26191367G>A
  • NG_007121.1:g.58254C>T
  • NM_000182.5:c.2175C>TMANE SELECT
  • NP_000173.2:p.Gly725=
  • LRG_747t1:c.2175C>T
  • LRG_747p1:p.Gly725=
  • NC_000002.11:g.26414236G>A
  • NM_000182.4:c.2175C>T
Links:
dbSNP: rs375399631
NCBI 1000 Genomes Browser:
rs375399631
Molecular consequence:
  • NM_000182.5:c.2175C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000856428EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Aug 16, 2017) 		germlineclinical testing

Citation Link,

SCV001152186CeGaT Praxis fuer Humangenetik Tuebingen
criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)		Uncertain significance
(May 1, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000856428.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001152186.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021