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NM_001684.5(ATP2B4):c.880G>A (p.Glu294Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 19, 2022
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:
RCV004160577.1

Allele description [Variation Report for NM_001684.5(ATP2B4):c.880G>A (p.Glu294Lys)]

NM_001684.5(ATP2B4):c.880G>A (p.Glu294Lys)

Gene:
ATP2B4:ATPase plasma membrane Ca2+ transporting 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001684.5(ATP2B4):c.880G>A (p.Glu294Lys)
HGVS:
  • NC_000001.11:g.203700902G>A
  • NG_029589.1:g.79116G>A
  • NM_001001396.3:c.880G>A
  • NM_001365783.2:c.880G>A
  • NM_001365784.2:c.880G>A
  • NM_001684.5:c.880G>AMANE SELECT
  • NP_001001396.1:p.Glu294Lys
  • NP_001352712.1:p.Glu294Lys
  • NP_001352713.1:p.Glu294Lys
  • NP_001675.3:p.Glu294Lys
  • NC_000001.10:g.203670030G>A
  • NM_001684.4:c.880G>A
Protein change:
E294K
Molecular consequence:
  • NM_001001396.3:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365783.2:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365784.2:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001684.5:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003648922Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 19, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003648922.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.880G>A (p.E294K) alteration is located in exon 6 (coding exon 5) of the ATP2B4 gene. This alteration results from a G to A substitution at nucleotide position 880, causing the glutamic acid (E) at amino acid position 294 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024