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NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 12, 2022
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:
RCV002820698.3

Allele description [Variation Report for NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs)]

NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs)

Gene:
PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs)
HGVS:
  • NC_000017.11:g.2666052del
  • NG_009799.1:g.77424del
  • NM_000430.4:c.154delMANE SELECT
  • NP_000421.1:p.Glu52fs
  • NC_000017.10:g.2569345del
  • NC_000017.10:g.2569346del
Protein change:
E52fs
Molecular consequence:
  • NM_000430.4:c.154del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003206324Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 12, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Clinical and molecular diagnosis of Miller-Dieker syndrome.

Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH.

Am J Hum Genet. 1991 Mar;48(3):584-94.

PubMed [citation]
PMID:
1671808
PMCID:
PMC1682996

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH.

Hum Mol Genet. 2000 Dec 12;9(20):3019-28.

PubMed [citation]
PMID:
11115846
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003206324.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Glu52Lysfs*17) in the PAFAH1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAFAH1B1 are known to be pathogenic (PMID: 1671808, 11115846, 14581661). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PAFAH1B1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Sep 29, 2024