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NM_001677.4(ATP1B1):c.814dup (p.Ile272fs) AND Global developmental delay

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001527620.2

Allele description [Variation Report for NM_001677.4(ATP1B1):c.814dup (p.Ile272fs)]

NM_001677.4(ATP1B1):c.814dup (p.Ile272fs)

Gene:
ATP1B1:ATPase Na+/K+ transporting subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q24.2
Genomic location:
Preferred name:
NM_001677.4(ATP1B1):c.814dup (p.Ile272fs)
HGVS:
  • NC_000001.11:g.169131457dup
  • NG_023230.1:g.29749dup
  • NG_051763.1:g.241509dup
  • NM_001677.4:c.814dupMANE SELECT
  • NP_001668.1:p.Ile272fs
  • NC_000001.10:g.169100695dup
  • NM_001677.3:c.814dup
Protein change:
I272fs
Links:
dbSNP: rs2101796350
NCBI 1000 Genomes Browser:
rs2101796350
Molecular consequence:
  • NM_001677.4:c.814dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001738730Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
no assertion criteria provided
Uncertain significance
(Jan 1, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001738730.1

#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: Oct 8, 2024