NM_016277.5(RAB23):c.559del (p.Ser187fs) AND RAB23-related Carpenter syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 22, 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:: RCV001580770.3

Allele description [Variation Report for NM_016277.5(RAB23):c.559del (p.Ser187fs)]

NM_016277.5(RAB23):c.559del (p.Ser187fs)

Gene:

RAB23:RAB23, member RAS oncogene family [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p12.1

Genomic location:

Preferred name:

NM_016277.5(RAB23):c.559del (p.Ser187fs)

HGVS:

NC_000006.12:g.57193858del
NG_012170.1:g.33424del
NM_001278666.2:c.559del
NM_001278667.2:c.559del
NM_001278668.2:c.559del
NM_016277.5:c.559delMANE SELECT
NM_183227.3:c.559del
NP_001265595.1:p.Ser187fs
NP_001265596.1:p.Ser187fs
NP_001265597.1:p.Ser187fs
NP_057361.3:p.Ser187fs
NP_899050.1:p.Ser187fs
NC_000006.11:g.57058656del
NR_103822.2:n.411del

Protein change:

S187fs

Links:

dbSNP: rs2127997645

Molecular consequence:

NM_001278666.2:c.559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278667.2:c.559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278668.2:c.559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_016277.5:c.559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_183227.3:c.559del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103822.2:n.411del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: RAB23-related Carpenter syndrome
Synonyms:: ACPS II; Carpenter syndrome 1; Acrocephalopolysyndactyly Type II
Identifiers:: MONDO: MONDO:0008710; MedGen: C4551510; Orphanet: 65759; OMIM: 201000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001810586	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 22, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001810586

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 22, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical 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 Genome-Nilou Lab, SCV001810586.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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