NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs) AND Capillary malformation-arteriovenous malformation 1

Clinical significance:Likely pathogenic (Last evaluated: Dec 27, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001335991.1

Allele description [Variation Report for NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)]

NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)

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.2452_2453del (p.Ile818fs)
HGVS:
  • NC_000005.10:g.87378503_87378504del
  • NG_011650.1:g.115170_115171del
  • NM_001364075.2:c.933+16541_933+16542del
  • NM_002890.3:c.2452_2453delMANE SELECT
  • NM_022650.3:c.1921_1922del
  • NP_002881.1:p.Ile818fs
  • NP_072179.1:p.Ile641fs
  • NC_000005.9:g.86674320_86674321del
  • NM_002890.2:c.2452_2453delAT
Protein change:
I641fs
Molecular consequence:
  • NM_002890.3:c.2452_2453del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022650.3:c.1921_1922del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001364075.2:c.933+16541_933+16542del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001529259Baylor Geneticscriteria provided, single submitter
Likely pathogenic
(Dec 27, 2018)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot 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 Baylor Genetics, SCV001529259.1

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

Description

This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Oct 7, 2021

Support Center