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NM_001001485.3(ATP2C1):c.2630-98dup AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
May 11, 2021
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:
RCV001620700.12

Allele description [Variation Report for NM_001001485.3(ATP2C1):c.2630-98dup]

NM_001001485.3(ATP2C1):c.2630-98dup

Genes:
ATP2C1:ATPase secretory pathway Ca2+ transporting 1 [Gene - OMIM - HGNC]
ASTE1:asteroid homolog 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_001001485.3(ATP2C1):c.2630-98dup
HGVS:
  • NC_000003.12:g.131016054dup
  • NG_007379.2:g.170530dup
  • NM_001001485.3:c.2630-98dup
  • NM_001001486.2:c.2755-98dup
  • NM_001001487.2:c.2725-98dup
  • NM_001199180.2:c.2827-98dup
  • NM_001199182.2:c.2740-98dup
  • NM_001199183.2:c.2677-98dup
  • NM_001199185.2:c.2630-98dup
  • NM_001288950.2:c.1709+100dup
  • NM_001378511.1:c.2857-98dup
  • NM_001378512.1:c.2755-98dup
  • NM_001378513.1:c.2725-98dup
  • NM_001378514.1:c.2707-98dup
  • NM_014065.4:c.1709+100dupMANE SELECT
  • NC_000003.11:g.130734898dup
Links:
dbSNP: rs34645149
NCBI 1000 Genomes Browser:
rs34645149
Molecular consequence:
  • NM_001001485.3:c.2630-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001001486.2:c.2755-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001001487.2:c.2725-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199180.2:c.2827-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199182.2:c.2740-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199183.2:c.2677-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199185.2:c.2630-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288950.2:c.1709+100dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378511.1:c.2857-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378512.1:c.2755-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378513.1:c.2725-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378514.1:c.2707-98dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014065.4:c.1709+100dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001847080GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(May 11, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001847080.1

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

Last Updated: Dec 14, 2024