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NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2020
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:
RCV001092173.22

Allele description [Variation Report for NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)]

NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)

Gene:
RIT1:Ras like without CAAX 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)
HGVS:
  • NC_000001.11:g.155910693T>G
  • NG_033885.1:g.5710A>C
  • NM_001256820.2:c.-2-187A>C
  • NM_001256821.2:c.120A>C
  • NM_006912.6:c.69A>CMANE SELECT
  • NP_001243750.1:p.Lys40Asn
  • NP_008843.1:p.Lys23Asn
  • LRG_1372t1:c.69A>C
  • LRG_1372:g.5710A>C
  • LRG_1372p1:p.Lys23Asn
  • NC_000001.10:g.155880484T>G
  • NM_006912.5:c.69A>C
Protein change:
K23N
Links:
dbSNP: rs1557962794
NCBI 1000 Genomes Browser:
rs1557962794
Molecular consequence:
  • NM_001256820.2:c.-2-187A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256821.2:c.120A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006912.6:c.69A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001248554CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Pathogenic
(Jan 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001248554.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 20, 2024