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NM_002890.3(RASA1):c.1453_1453+5del AND Capillary malformation-arteriovenous malformation 1

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:
RCV004720180.1

Allele description [Variation Report for NM_002890.3(RASA1):c.1453_1453+5del]

NM_002890.3(RASA1):c.1453_1453+5del

Genes:
RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
CCNH:cyclin H [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_002890.3(RASA1):c.1453_1453+5del
HGVS:
  • NC_000005.10:g.87362671_87362676del
  • NG_011650.1:g.99338_99343del
  • NM_001364075.2:c.933+32371_933+32376del
  • NM_002890.3:c.1453_1453+5delMANE SELECT
  • NM_022650.3:c.922_922+5del
  • NC_000005.9:g.86658488_86658493del
  • NM_002890.2:c.1453_1453+5del
Molecular consequence:
  • NM_001364075.2:c.933+32371_933+32376del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002890.3:c.1453_1453+5del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_022650.3:c.922_922+5del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Capillary malformation-arteriovenous malformation 1 (CMAVM1)
Identifiers:
MONDO: MONDO:0020783; MedGen: C4747394; Orphanet: 137667; OMIM: 608354

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005326295Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicsomaticclinical 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 Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV005326295.1

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

Description

The c.2926-1G>A variant disrupts a splice acceptor site and is predicted to result in an in-frame skipping of exon 24 (of 25 total exons). This variant has been reported in cancer (COSV56924553), as has c.2925-1G>T (COSV56924553), which is expected to have the same impact. The c.2926-1G>A variant is absent from large population studies (gnomAD v4.0.0).

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

Last Updated: Nov 10, 2024