NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) AND RAB23-related Carpenter syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 26, 2017
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:: RCV001836364.1

Allele description [Variation Report for NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)]

NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.1

Genomic location:

Preferred name:

NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)

HGVS:

NC_000006.12:g.57190463A>C
NG_012170.1:g.36818T>G
NM_001278666.2:c.712T>G
NM_001278667.2:c.712T>G
NM_001278668.2:c.712T>G
NM_016277.5:c.712T>GMANE SELECT
NM_183227.3:c.712T>G
NP_001265595.1:p.Ter238Glu
NP_001265596.1:p.Ter238Glu
NP_001265597.1:p.Ter238Glu
NP_057361.3:p.Ter238Glu
NP_899050.1:p.Ter238Glu
NC_000006.11:g.57055261A>C
NR_103822.2:n.564T>G

Links:

dbSNP: rs751619487

NCBI 1000 Genomes Browser:

rs751619487

Molecular consequence:

NR_103822.2:n.564T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001278666.2:c.712T>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001278667.2:c.712T>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001278668.2:c.712T>G - stop lost - [Sequence Ontology: SO:0001578]
NM_016277.5:c.712T>G - stop lost - [Sequence Ontology: SO:0001578]
NM_183227.3:c.712T>G - stop lost - [Sequence Ontology: SO:0001578]

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
SCV002083433	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jun 26, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002083433

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jun 26, 2017)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002083433.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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