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NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) AND Intellectual disability

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 3, 2020
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:
RCV001255331.3

Allele description [Variation Report for NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)]

NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)

Gene:
PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)
HGVS:
  • NC_000017.11:g.2666060dup
  • NG_009799.1:g.77432dup
  • NM_000430.4:c.162dupMANE SELECT
  • NP_000421.1:p.Trp55fs
  • NC_000017.10:g.2569346_2569347insA
  • NC_000017.10:g.2569354dup
  • NC_000017.11:g.2666052_2666053insA
  • NM_000430.3:c.162dup
  • NM_000430.3:c.162dupA
  • p.Trp55Metfs*6
Protein change:
W55fs
Links:
dbSNP: rs113994198
NCBI 1000 Genomes Browser:
rs113994198
Molecular consequence:
  • NM_000430.4:c.162dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001431661Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 3, 2020) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001431661.1

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

Description

The variant c.162dup, p.(Trp55Metfs*6) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Pathogenic according to ACMG guidelines. Inheritance for this variant was mosaic (17% allele frequency).The variant likely explains the NDD in this individual.

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

Last Updated: Sep 29, 2024