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NM_004320.6(ATP2A1):c.1764+6del AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 15, 2013
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:
RCV000082696.9

Allele description [Variation Report for NM_004320.6(ATP2A1):c.1764+6del]

NM_004320.6(ATP2A1):c.1764+6del

Gene:
ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_004320.6(ATP2A1):c.1764+6del
HGVS:
  • NC_000016.10:g.28898457del
  • NG_023327.1:g.24970del
  • NM_001286075.2:c.1389+6del
  • NM_004320.6:c.1764+6delMANE SELECT
  • NM_173201.5:c.1764+6del
  • NC_000016.9:g.28909778del
  • NM_173201.3:c.1764+6del
  • NM_173201.3:c.1764+6delC
Links:
dbSNP: rs66716803
NCBI 1000 Genomes Browser:
rs66716803
Molecular consequence:
  • NM_001286075.2:c.1389+6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004320.6:c.1764+6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_173201.5:c.1764+6del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000114740Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Jan 15, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000114740.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Feb 28, 2024