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NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro) AND Familial benign pemphigus

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2002
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:
RCV000005930.9

Allele description [Variation Report for NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro)]

NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro)

Gene:
ATP2C1:ATPase secretory pathway Ca2+ transporting 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro)
HGVS:
  • NC_000003.12:g.130980591T>C
  • NG_007379.2:g.135067T>C
  • NM_001001485.3:c.1751T>C
  • NM_001001486.2:c.1751T>C
  • NM_001001487.2:c.1751T>C
  • NM_001199179.3:c.1751T>C
  • NM_001199180.2:c.1853T>C
  • NM_001199181.3:c.1853T>C
  • NM_001199182.2:c.1736T>C
  • NM_001199183.2:c.1703T>C
  • NM_001199184.3:c.1703T>C
  • NM_001199185.2:c.1751T>C
  • NM_001378511.1:c.1853T>C
  • NM_001378512.1:c.1751T>C
  • NM_001378513.1:c.1751T>C
  • NM_001378514.1:c.1703T>C
  • NM_001378687.1:c.1751T>CMANE SELECT
  • NM_014382.5:c.1751T>C
  • NP_001001485.1:p.Leu584Pro
  • NP_001001486.1:p.Leu584Pro
  • NP_001001487.1:p.Leu584Pro
  • NP_001186108.1:p.Leu584Pro
  • NP_001186109.1:p.Leu618Pro
  • NP_001186110.1:p.Leu618Pro
  • NP_001186111.1:p.Leu579Pro
  • NP_001186112.1:p.Leu568Pro
  • NP_001186113.1:p.Leu568Pro
  • NP_001186114.1:p.Leu584Pro
  • NP_001365440.1:p.Leu618Pro
  • NP_001365441.1:p.Leu584Pro
  • NP_001365442.1:p.Leu584Pro
  • NP_001365443.1:p.Leu568Pro
  • NP_001365616.1:p.Leu584Pro
  • NP_055197.2:p.Leu584Pro
  • NC_000003.11:g.130699435T>C
  • P98194:p.Leu584Pro
Protein change:
L568P; LEU584PRO
Links:
UniProtKB: P98194#VAR_019524; OMIM: 604384.0008; dbSNP: rs137853015
NCBI 1000 Genomes Browser:
rs137853015
Molecular consequence:
  • NM_001001485.3:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001486.2:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001487.2:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199179.3:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199180.2:c.1853T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199181.3:c.1853T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199182.2:c.1736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199183.2:c.1703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199184.3:c.1703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199185.2:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378511.1:c.1853T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378512.1:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378513.1:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378514.1:c.1703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378687.1:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014382.5:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial benign pemphigus (HHD)
Synonyms:
Hailey Hailey disease
Identifiers:
MONDO: MONDO:0008218; MedGen: C0085106; Orphanet: 2841; OMIM: 169600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026112OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2002) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease.

Yokota K, Yasukawa K, Shimizu H.

J Invest Dermatol. 2002 Mar;118(3):550-1. No abstract available.

PubMed [citation]
PMID:
11874499

Details of each submission

From OMIM, SCV000026112.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Japanese patient who represented a sporadic occurrence of Hailey-Hailey disease (HHD; 169600), Yokota et al. (2002) reported a T-to-C transition at nucleotide 1751 in exon 19 of the ATP2C1 gene, resulting in a leu584-to-pro (L584P) amino acid substitution.

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

Last Updated: Mar 10, 2024