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NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Nov 19, 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:
RCV001572670.14

Allele description [Variation Report for NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)]

NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)

Gene:
ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
HGVS:
  • NC_000023.11:g.78045547G>C
  • NG_013224.2:g.139851G>C
  • NM_000052.7:c.4201G>CMANE SELECT
  • NM_001282224.2:c.3967G>C
  • NP_000043.4:p.Val1401Leu
  • NP_001269153.1:p.Val1323Leu
  • NC_000023.10:g.77301044G>C
  • NM_000052.4:c.4201G>C
  • NM_000052.6:c.4201G>C
  • NR_104109.2:n.1374G>C
Protein change:
V1323L
Links:
dbSNP: rs5959130
NCBI 1000 Genomes Browser:
rs5959130
Molecular consequence:
  • NM_000052.7:c.4201G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282224.2:c.3967G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104109.2:n.1374G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001474089ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)
Benign
(Nov 19, 2021)
germlineclinical testing

Citation Link,

SCV001797400Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001474089.2

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001797400.1

#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: Jul 15, 2024