NM_001017420.3(ESCO2):c.*130delinsACACACACACA AND Roberts-SC phocomelia syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000338188.5

Allele description [Variation Report for NM_001017420.3(ESCO2):c.*130delinsACACACACACA]

NM_001017420.3(ESCO2):c.*130delinsACACACACACA

Gene:

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

Variant type:

Indel

Cytogenetic location:

8p21.1

Genomic location:

Preferred name:

NM_001017420.3(ESCO2):c.*130delinsACACACACACA

HGVS:

NC_000008.11:g.27803568delinsACACACACACA
NG_008117.1:g.34028delinsACACACACACA
NM_001017420.3:c.*130delinsACACACACACAMANE SELECT
NC_000008.10:g.27661085delinsACACACACACA
NM_001017420.2:c.*130delGinsACACACACACA

Links:

dbSNP: rs869163244

NCBI 1000 Genomes Browser:

rs869163244

Molecular consequence:

NM_001017420.3:c.*130delinsACACACACACA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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; See all synonyms [MedGen]
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
SCV000473269	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000473269

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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 Illumina Laboratory Services, Illumina, SCV000473269.2

#	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: Jun 17, 2024

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