NM_001017420.3(ESCO2):c.166_170del (p.Val56fs) AND Roberts syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 12, 2020
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:: RCV001831389.1

Allele description [Variation Report for NM_001017420.3(ESCO2):c.166_170del (p.Val56fs)]

NM_001017420.3(ESCO2):c.166_170del (p.Val56fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

8p21.1

Genomic location:

Preferred name:

NM_001017420.3(ESCO2):c.166_170del (p.Val56fs)

HGVS:

NC_000008.11:g.27776474_27776478del
NG_008117.1:g.6934_6938del
NM_001017420.3:c.166_170delMANE SELECT
NP_001017420.1:p.Val56fs
NC_000008.10:g.27633987_27633991del
NC_000008.10:g.27633991_27633995del
NM_001017420.2:c.166_170delGTTTT

Protein change:

V56fs

Links:

dbSNP: rs750842366

NCBI 1000 Genomes Browser:

rs750842366

Molecular consequence:

NM_001017420.3:c.166_170del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Roberts syndrome
Synonyms:: Roberts tetraphocomelia syndrome; Pseudothalidomide syndrome; Appelt-Gerken-Lenz syndrome
Identifiers:: MedGen: CN300934

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002083234	Natera, Inc.	no assertion criteria provided	Pathogenic (Apr 12, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002083234

Natera, Inc.

no assertion criteria provided

Pathogenic
(Apr 12, 2020)

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., SCV002083234.1

#	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: Feb 20, 2024

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