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NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV000735404.2

Allele description [Variation Report for NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)]

NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)

Gene:
HERC2:HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q13.1
Genomic location:
Preferred name:
NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)
HGVS:
  • NC_000015.10:g.28229535T>C
  • NG_016355.1:g.97615A>G
  • NM_004667.4:c.5045A>G
  • NM_004667.6:c.5045A>GMANE SELECT
  • NP_004658.3:p.Asn1682Ser
  • NP_004658.3:p.Asn1682Ser
  • NC_000015.9:g.28474681T>C
  • NM_004667.5:c.5045A>G
Protein change:
N1682S
Links:
dbSNP: rs140073033
NCBI 1000 Genomes Browser:
rs140073033
Molecular consequence:
  • NM_004667.6:c.5045A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Elevated circulating creatine kinase concentration
Synonyms:
HYPERCKEMIA, IDIOPATHIC; Elevated serum creatine phosphokinase; CAV3-Related Isolated HyperCKemia
Identifiers:
MONDO: MONDO:0007402; MedGen: C0241005; OMIM: 123320; Human Phenotype Ontology: HP:0003236
Name:
Dystonic disorder
Synonyms:
Dystonia
Identifiers:
MONDO: MONDO:0003441; MedGen: C0013421; Human Phenotype Ontology: HP:0001332
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Abnormal female external genitalia morphology
Identifiers:
MedGen: C4021822; Human Phenotype Ontology: HP:0000055
Name:
Oculomotor apraxia
Identifiers:
MedGen: C3489733; Human Phenotype Ontology: HP:0000657
Name:
Orofacial dyskinesia
Identifiers:
MONDO: MONDO:0004901; MedGen: C0152115; Human Phenotype Ontology: HP:0002310
Name:
Abnormal globus pallidus morphology
Synonyms:
Abnormality of the globus pallidus
Identifiers:
MedGen: C4025706; Human Phenotype Ontology: HP:0002453
Name:
Involuntary movements
Identifiers:
MedGen: C0427086; Human Phenotype Ontology: HP:0004305
Name:
Hypoplastic female external genitalia
Identifiers:
MedGen: C4022715; Human Phenotype Ontology: HP:0012815
Name:
Rhabdomyolysis
Synonyms:
Rhabdomyolysis (disease)
Identifiers:
MedGen: C0035410; Human Phenotype Ontology: HP:0003201

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854559Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854559.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Oct 8, 2024