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NM_001017420.3(ESCO2):c.1131+1G>A AND Roberts syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 19, 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:
RCV001826483.1

Allele description [Variation Report for NM_001017420.3(ESCO2):c.1131+1G>A]

NM_001017420.3(ESCO2):c.1131+1G>A

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.1131+1G>A
HGVS:
  • NC_000008.11:g.27788003G>A
  • NG_008117.1:g.18463G>A
  • NM_001017420.3:c.1131+1G>AMANE SELECT
  • NC_000008.10:g.27645520G>A
  • NM_001017420.2:c.1131+1G>A
Links:
dbSNP: rs80359861
NCBI 1000 Genomes Browser:
rs80359861
Molecular consequence:
  • NM_001017420.3:c.1131+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002083252Natera, Inc.
no assertion criteria provided
Pathogenic
(Mar 19, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002083252.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024