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NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer) AND Glycosylphosphatidylinositol biosynthesis defect 16

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001175143.2

Allele description [Variation Report for NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)]

NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)

Genes:
C1orf105:chromosome 1 open reading frame 105 [Gene - HGNC]
PIGC:phosphatidylinositol glycan anchor biosynthesis class C [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
HGVS:
  • NC_000001.11:g.172442611_172442612insGTTAGTCACAAT
  • NG_050631.1:g.6480_6481insTTGTGACTAACA
  • NM_002642.4:c.12_13insTTGTGACTAACA
  • NM_139240.4:c.22-2462_22-2461insGTTAGTCACAATMANE SELECT
  • NM_153747.2:c.12_13insTTGTGACTAACAMANE SELECT
  • NP_002633.1:p.Pro5delinsLeuTer
  • NP_714969.1:p.Pro5delinsLeuTer
  • NC_000001.10:g.172411751_172411752insGTTAGTCACAAT
  • NM_002642.3:c.12_13insTTGTGACTAACA
Links:
Molecular consequence:
  • NM_139240.4:c.22-2462_22-2461insGTTAGTCACAAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002642.4:c.12_13insTTGTGACTAACA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153747.2:c.12_13insTTGTGACTAACA - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Glycosylphosphatidylinositol biosynthesis defect 16
Synonyms:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62
Identifiers:
MONDO: MONDO:0040500; MedGen: C4540521; OMIM: 617816

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001334273Génétique des Maladies du Développement, Hospices Civils de Lyon
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicinheritedclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001334273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024