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NM_032634.4(PIGO):c.2612A>C (p.His871Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 25, 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:
RCV002545080.2

Allele description [Variation Report for NM_032634.4(PIGO):c.2612A>C (p.His871Pro)]

NM_032634.4(PIGO):c.2612A>C (p.His871Pro)

Gene:
PIGO:phosphatidylinositol glycan anchor biosynthesis class O [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_032634.4(PIGO):c.2612A>C (p.His871Pro)
HGVS:
  • NC_000009.12:g.35091275T>G
  • NG_031990.1:g.10327A>C
  • NM_001201484.2:c.1361A>C
  • NM_032634.3:c.2612A>C
  • NM_032634.4:c.2612A>CMANE SELECT
  • NM_152850.4:c.1361A>C
  • NP_001188413.1:p.His454Pro
  • NP_116023.2:p.His871Pro
  • NP_690577.2:p.His454Pro
  • NC_000009.11:g.35091272T>G
Protein change:
H454P
Links:
dbSNP: rs909488930
NCBI 1000 Genomes Browser:
rs909488930
Molecular consequence:
  • NM_001201484.2:c.1361A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032634.4:c.2612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152850.4:c.1361A>C - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003556287Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jun 25, 2021)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Morren MA, Jaeken J, Visser G, Salles I, Van Geet C; NIHR BioResource., Simeoni I, Turro E, Freson K.

Orphanet J Rare Dis. 2017 May 25;12(1):101. doi: 10.1186/s13023-017-0654-9. Review.

PubMed [citation]
PMID:
28545593
PMCID:
PMC5445308

Details of each submission

From Ambry Genetics, SCV003556287.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

(Morren, 2017) 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