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NM_006506.5(RASA2):c.1170-8T>C AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2024
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:
RCV003988332.1

Allele description [Variation Report for NM_006506.5(RASA2):c.1170-8T>C]

NM_006506.5(RASA2):c.1170-8T>C

Gene:
RASA2:RAS p21 protein activator 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q23
Genomic location:
Preferred name:
NM_006506.5(RASA2):c.1170-8T>C
HGVS:
  • NC_000003.12:g.141572601T>C
  • NG_042187.1:g.90555T>C
  • NM_001303245.3:c.1170-8T>C
  • NM_001303246.3:c.1170-8T>C
  • NM_006506.5:c.1170-8T>CMANE SELECT
  • NC_000003.11:g.141291443T>C
Molecular consequence:
  • NM_001303245.3:c.1170-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001303246.3:c.1170-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006506.5:c.1170-8T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004804089Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Jan 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004804089.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024