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NM_015355.4(SUZ12):c.274+4_274+7del AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 16, 2023
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:
RCV004761121.1

Allele description [Variation Report for NM_015355.4(SUZ12):c.274+4_274+7del]

NM_015355.4(SUZ12):c.274+4_274+7del

Gene:
SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Preferred name:
NM_015355.4(SUZ12):c.274+4_274+7del
HGVS:
  • NC_000017.11:g.31937520AGTG[1]
  • NG_009237.1:g.5496AGTG[1]
  • NG_136194.1:g.523AGTG[1]
  • NG_136194.2:g.723AGTG[1]
  • NM_001321207.2:c.274+4_274+7del
  • NM_015355.4:c.274+4_274+7delMANE SELECT
  • NC_000017.10:g.30264539AGTG[1]
Molecular consequence:
  • NM_001321207.2:c.274+4_274+7del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_015355.4:c.274+4_274+7del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005371176GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 16, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV005371176.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024