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NM_002890.3(RASA1):c.1698+2dup AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV004593539.1

Allele description [Variation Report for NM_002890.3(RASA1):c.1698+2dup]

NM_002890.3(RASA1):c.1698+2dup

Genes:
RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
CCNH:cyclin H [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_002890.3(RASA1):c.1698+2dup
HGVS:
  • NC_000005.10:g.87369902dup
  • NG_011650.1:g.106569dup
  • NM_001364075.2:c.933+25142dup
  • NM_002890.3:c.1698+2dupMANE SELECT
  • NM_022650.3:c.1167+2dup
  • NC_000005.9:g.86665719dup
Molecular consequence:
  • NM_001364075.2:c.933+25142dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002890.3:c.1698+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_022650.3:c.1167+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005079928GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 11, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV005079928.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified in an individual with CM and AVMs (Wooderchak-Donahue et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 29891884, 26096958)

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

Last Updated: Nov 10, 2024