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NM_016277.5(RAB23):c.701G>C (p.Cys234Ser) AND RAB23-related Carpenter syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 9, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004759460.1

Allele description [Variation Report for NM_016277.5(RAB23):c.701G>C (p.Cys234Ser)]

NM_016277.5(RAB23):c.701G>C (p.Cys234Ser)

Gene:
RAB23:RAB23, member RAS oncogene family [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_016277.5(RAB23):c.701G>C (p.Cys234Ser)
HGVS:
  • NC_000006.12:g.57190474C>G
  • NG_012170.1:g.36807G>C
  • NM_001278666.2:c.701G>C
  • NM_001278667.2:c.701G>C
  • NM_001278668.2:c.701G>C
  • NM_016277.5:c.701G>CMANE SELECT
  • NM_183227.3:c.701G>C
  • NP_001265595.1:p.Cys234Ser
  • NP_001265596.1:p.Cys234Ser
  • NP_001265597.1:p.Cys234Ser
  • NP_057361.3:p.Cys234Ser
  • NP_899050.1:p.Cys234Ser
  • NC_000006.11:g.57055272C>G
  • NR_103822.2:n.553G>C
Protein change:
C234S
Molecular consequence:
  • NM_001278666.2:c.701G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278667.2:c.701G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278668.2:c.701G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016277.5:c.701G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183227.3:c.701G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103822.2:n.553G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
RAB23-related Carpenter syndrome
Synonyms:
ACPS II; Acrocephalopolysyndactyly type 2; ACPS 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008710; MedGen: C4551510; Orphanet: 65759; OMIM: 201000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005367961Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
no assertion criteria provided

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 9, 2024) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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 Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals, SCV005367961.1

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

Last Updated: Oct 20, 2024