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NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg) AND RAB5C-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 2021
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:
RCV001837736.2

Allele description [Variation Report for NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg)]

NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg)

Gene:
RAB5C:RAB5C, member RAS oncogene family [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg)
Other names:
p.Q113R
HGVS:
  • NC_000017.11:g.42128728T>C
  • NM_001252039.2:c.338A>G
  • NM_004583.4:c.239A>GMANE SELECT
  • NM_201434.1:c.239A>G
  • NM_201434.3:c.239A>G
  • NP_001238968.1:p.Gln113Arg
  • NP_004574.2:p.Gln80Arg
  • NP_958842.1:p.Gln80Arg
  • NC_000017.10:g.40280746T>C
  • NM_001252039.1:c.338A>G
Protein change:
Q113R
Links:
dbSNP: rs2144062523
NCBI 1000 Genomes Browser:
rs2144062523
Molecular consequence:
  • NM_001252039.2:c.338A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004583.4:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201434.3:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
RAB5C-related disorder
Synonyms:
RAB5C-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002098355Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Dec 2, 2021)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not 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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV002098355.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: May 19, 2024