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NM_000701.8(ATP1A1):c.19C>T (p.Arg7Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 9, 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:
RCV002713469.2

Allele description [Variation Report for NM_000701.8(ATP1A1):c.19C>T (p.Arg7Cys)]

NM_000701.8(ATP1A1):c.19C>T (p.Arg7Cys)

Gene:
ATP1A1:ATPase Na+/K+ transporting subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.1
Genomic location:
Preferred name:
NM_000701.8(ATP1A1):c.19C>T (p.Arg7Cys)
HGVS:
  • NC_000001.11:g.116384020C>T
  • NG_047036.1:g.16836C>T
  • NM_000701.8:c.19C>TMANE SELECT
  • NM_001160233.2:c.19C>T
  • NM_001160234.2:c.-75C>T
  • NP_000692.2:p.Arg7Cys
  • NP_001153705.1:p.Arg7Cys
  • NC_000001.10:g.116926642C>T
  • NM_001160233.1:c.19C>T
Protein change:
R7C
Molecular consequence:
  • NM_001160234.2:c.-75C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000701.8:c.19C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160233.2:c.19C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003565053Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 9, 2021) 		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, SCV003565053.2

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

Description

The c.19C>T (p.R7C) alteration is located in exon 2 (coding exon 2) of the ATP1A1 gene. This alteration results from a C to T substitution at nucleotide position 19, causing the arginine (R) at amino acid position 7 to be replaced by a cysteine (C). 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: Sep 29, 2024