NM_000430.4(PAFAH1B1):c.569-10T>C AND Lissencephaly

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001291184.2

Allele description [Variation Report for NM_000430.4(PAFAH1B1):c.569-10T>C]

NM_000430.4(PAFAH1B1):c.569-10T>C

Gene:

PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.3

Genomic location:

Preferred name:

NM_000430.4(PAFAH1B1):c.569-10T>C

HGVS:

NC_000017.11:g.2672645T>C
NG_009799.1:g.84017T>C
NM_000430.4:c.569-10T>CMANE SELECT
NC_000017.10:g.2575939T>C
NM_000430.3:c.569-10T>C

Links:

dbSNP: rs113994202

NCBI 1000 Genomes Browser:

rs113994202

Molecular consequence:

NM_000430.4:c.569-10T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Lissencephaly
Synonyms:: Lissencephaly spectrum disorders
Identifiers:: MONDO: MONDO:0018838; MeSH: D054082; MedGen: C0266463; OMIM: PS607432; Human Phenotype Ontology: HP:0001339

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001479607	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001479607

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

PubMed [citation]

PMID:: 29671837
PMCID:: PMC6195491

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479607.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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