NM_001017420.3(ESCO2):c.1674-2A>G AND Roberts-SC phocomelia syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000020401.3

Allele description [Variation Report for NM_001017420.3(ESCO2):c.1674-2A>G]

NM_001017420.3(ESCO2):c.1674-2A>G

Gene:

ESCO2:establishment of sister chromatid cohesion N-acetyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.1

Genomic location:

Preferred name:

NM_001017420.3(ESCO2):c.1674-2A>G

HGVS:

NC_000008.11:g.27803304A>G
NG_008117.1:g.33764A>G
NM_001017420.3:c.1674-2A>GMANE SELECT
NC_000008.10:g.27660821A>G
NM_001017420.2:c.1674-2A>G

Links:

dbSNP: rs80359869

NCBI 1000 Genomes Browser:

rs80359869

Molecular consequence:

NM_001017420.3:c.1674-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Roberts-SC phocomelia syndrome (RBS)
Synonyms:: Tetraphocomelia-cleft palate syndrome; Roberts syndrome/SC phocomelia; Long bone deficiencies associated with cleft lip-palate
Identifiers:: MONDO: MONDO:0100253; MedGen: C0392475; Orphanet: 3103; OMIM: 268300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040798	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 16380922, 20301332

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040798

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Schüle B, Oviedo A, Johnston K, Pai S, Francke U.

Am J Hum Genet. 2005 Dec;77(6):1117-28. Epub 2005 Oct 31.

PubMed [citation]

PMID:: 16380922
PMCID:: PMC1285169

ESCO2 Spectrum Disorder.

Vega H, Gordillo M, Jabs EW.

2006 Apr 18 [updated 2020 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301332

Details of each submission

From GeneReviews, SCV000040798.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

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

Last Updated: Jan 26, 2024

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