U.S. flag

An official website of the United States government

NM_000533.5(PLP1):c.5-1636_5-1619dup AND not specified

Germline classification:
Benign (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:
RCV000993781.2

Allele description [Variation Report for NM_000533.5(PLP1):c.5-1636_5-1619dup]

NM_000533.5(PLP1):c.5-1636_5-1619dup

Genes:
RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq22.2
Genomic location:
Preferred name:
NM_000533.5(PLP1):c.5-1636_5-1619dup
HGVS:
  • NC_000023.11:g.103783946_103783963dup
  • NG_008863.2:g.12436_12453dup
  • NG_016452.2:g.53332_53349dup
  • NM_000533.5:c.5-1636_5-1619dupMANE SELECT
  • NM_001128834.3:c.5-1636_5-1619dup
  • NM_001305004.1:c.5-1801_5-1784dup
  • NM_199478.3:c.5-1636_5-1619dup
  • NC_000023.10:g.103038875_103038892dup
  • NC_000023.10:g.103038875_103038892dupTATTTATATATATACATA
Links:
dbSNP: rs202027037
NCBI 1000 Genomes Browser:
rs202027037
Molecular consequence:
  • NM_000533.5:c.5-1636_5-1619dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128834.3:c.5-1636_5-1619dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001305004.1:c.5-1801_5-1784dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_199478.3:c.5-1636_5-1619dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995908Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Benignunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000995908.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided

Description

This variant was dentified in a patient with an Xq22del, and noted in the context of the Xq22del mechanism of formation, but not believed to be indepdently causative of the observed phenotype.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022