NM_002890.3(RASA1):c.1447A>T (p.Lys483Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 5, 2016
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:
RCV000498475.10

Allele description [Variation Report for NM_002890.3(RASA1):c.1447A>T (p.Lys483Ter)]

NM_002890.3(RASA1):c.1447A>T (p.Lys483Ter)

Genes:
RASA1:RAS p21 protein activator 1 [Gene - OMIM - HGNC]
CCNH:cyclin H [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_002890.3(RASA1):c.1447A>T (p.Lys483Ter)
HGVS:
  • NC_000005.10:g.87362665A>T
  • NG_011650.1:g.99332A>T
  • NM_001364075.2:c.933+32379T>A
  • NM_002890.3:c.1447A>TMANE SELECT
  • NM_022650.3:c.916A>T
  • NP_002881.1:p.Lys483Ter
  • NP_072179.1:p.Lys306Ter
  • NC_000005.9:g.86658482A>T
  • NM_002890.2:c.1447A>T
Protein change:
K306*
Links:
dbSNP: rs1554047946
NCBI 1000 Genomes Browser:
rs1554047946
Molecular consequence:
  • NM_001364075.2:c.933+32379T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002890.3:c.1447A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_022650.3:c.916A>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000589842GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 5, 2016) 		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, SCV000589842.4

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

Description

The K483X variant in the RASA1 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. K483X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the RASA1 gene have been reported in HGMD in association with capillary malformation-arteriovenous malformations (CM-AVM) (Stenson et al., 2014). Furthermore, the K483X likely pathogenic variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.While the K483X variant has not been published, it is expected to be pathogenic

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

Last Updated: Apr 20, 2024