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NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs) AND Renpenning syndrome

Germline classification:
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:
RCV002254145.3

Allele description [Variation Report for NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs)]

NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs)

Gene:
PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs)
HGVS:
  • NC_000023.11:g.48902515_48902516del
  • NG_015967.1:g.9598_9599del
  • NG_015968.2:g.634_635del
  • NG_034300.1:g.14443_14444del
  • NM_001032381.2:c.575_576del
  • NM_001032382.2:c.575_576delMANE SELECT
  • NM_001032383.2:c.575_576del
  • NM_001032384.1:c.575_576del
  • NM_001167989.2:c.575_576del
  • NM_001167990.2:c.551_552del
  • NM_001167992.1:c.275_276del
  • NM_005710.2:c.575_576del
  • NM_144495.3:c.293-217_293-216del
  • NP_001027553.1:p.Lys192fs
  • NP_001027554.1:p.Lys192fs
  • NP_001027555.1:p.Lys192fs
  • NP_001027556.1:p.Lys192fs
  • NP_001161461.1:p.Lys192fs
  • NP_001161462.1:p.Lys184fs
  • NP_001161464.1:p.Lys92fs
  • NP_005701.1:p.Lys192fs
  • NC_000023.10:g.48759792_48759793del
Protein change:
K184fs
Links:
dbSNP: rs2147475642
NCBI 1000 Genomes Browser:
rs2147475642
Molecular consequence:
  • NM_001032381.2:c.575_576del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001032382.2:c.575_576del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001032383.2:c.575_576del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001032384.1:c.575_576del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167989.2:c.575_576del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167990.2:c.551_552del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167992.1:c.275_276del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005710.2:c.575_576del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144495.3:c.293-217_293-216del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Renpenning syndrome
Synonyms:
MENTAL RETARDATION, X-LINKED 55; Renpenning syndrome 1; Mental retardation, X-linked Renpenning type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010653; MedGen: C0796135; Orphanet: 3242; OMIM: 309500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525444Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV002525444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023