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NM_015355.4(SUZ12):c.1244_1248del (p.Glu415fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 30, 2024
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:
RCV001765755.3

Allele description [Variation Report for NM_015355.4(SUZ12):c.1244_1248del (p.Glu415fs)]

NM_015355.4(SUZ12):c.1244_1248del (p.Glu415fs)

Gene:
SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_015355.4(SUZ12):c.1244_1248del (p.Glu415fs)
HGVS:
  • NC_000017.11:g.31993279AAAAG[1]
  • NG_009237.1:g.61255AAAAG[1]
  • NM_001321207.2:c.1175_1179del
  • NM_015355.4:c.1244_1248delMANE SELECT
  • NP_001308136.1:p.Glu392fs
  • NP_056170.2:p.Glu415fs
  • NC_000017.10:g.30320298AAAAG[1]
  • NM_015355.2:c.1244_1248del
Protein change:
E392fs
Links:
dbSNP: rs2142213971
NCBI 1000 Genomes Browser:
rs2142213971
Molecular consequence:
  • NM_001321207.2:c.1175_1179del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015355.4:c.1244_1248del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001999392GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(May 30, 2024) 		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, SCV001999392.3

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 36645289)

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

Last Updated: Oct 8, 2024