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NM_015937.6(PIGT):c.197del (p.Tyr66fs) AND Paroxysmal nocturnal hemoglobinuria 2

Germline classification:
risk factor (1 submission)
Last evaluated:
Jun 6, 2017
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:
RCV000663337.2

Allele description [Variation Report for NM_015937.6(PIGT):c.197del (p.Tyr66fs)]

NM_015937.6(PIGT):c.197del (p.Tyr66fs)

Gene:
PIGT:phosphatidylinositol glycan anchor biosynthesis class T [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_015937.6(PIGT):c.197del (p.Tyr66fs)
HGVS:
  • NC_000020.11:g.45416526del
  • NG_047154.1:g.5460del
  • NM_001184728.3:c.197del
  • NM_001184729.3:c.197del
  • NM_001184730.3:c.187+183del
  • NM_015937.6:c.197delMANE SELECT
  • NP_001171657.1:p.Tyr66fs
  • NP_001171658.1:p.Tyr66fs
  • NP_057021.2:p.Tyr66fs
  • NC_000020.10:g.44045166del
  • NM_015937.5:c.197delA
  • NR_047691.2:n.213del
  • NR_047692.2:n.213del
  • NR_047693.2:n.213del
Protein change:
Y66fs
Links:
dbSNP: rs1555876283
NCBI 1000 Genomes Browser:
rs1555876283
Molecular consequence:
  • NM_001184728.3:c.197del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001184729.3:c.197del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015937.6:c.197del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001184730.3:c.187+183del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_047691.2:n.213del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047692.2:n.213del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047693.2:n.213del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Paroxysmal nocturnal hemoglobinuria 2 (PNH2)
Identifiers:
MONDO: MONDO:0014166; MedGen: C3809369; Orphanet: 447; OMIM: 615399

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778459Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
no assertion criteria provided
risk factor
(Jun 6, 2017) 		germline, not applicableclinical testing, in vitro

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV000778459.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitronot provided
2Caucasian1not providednot providedclinical testingnot provided

Description

The variant c.197delA has been reported in 1 German patient with atypical PNH (PIGT-PNH) in combination with a large deletion of the CDR including the PIGT gene on the other allele.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providedbloodnot providednot providednot providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024