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NM_012082.4(ZFPM2):c.1579C>T (p.Arg527Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 7, 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:
RCV003314790.2

Allele description [Variation Report for NM_012082.4(ZFPM2):c.1579C>T (p.Arg527Ter)]

NM_012082.4(ZFPM2):c.1579C>T (p.Arg527Ter)

Genes:
ZFPM2-AS1:ZFPM2 antisense RNA 1 [Gene - HGNC]
ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q23.1
Genomic location:
Preferred name:
NM_012082.4(ZFPM2):c.1579C>T (p.Arg527Ter)
HGVS:
  • NC_000008.11:g.105801661C>T
  • NG_011723.2:g.487743C>T
  • NM_001362836.2:c.1420C>T
  • NM_001362837.2:c.1183C>T
  • NM_012082.4:c.1579C>TMANE SELECT
  • NP_001349765.1:p.Arg474Ter
  • NP_001349766.1:p.Arg395Ter
  • NP_036214.2:p.Arg527Ter
  • NC_000008.10:g.106813889C>T
  • NM_012082.3:c.1579C>T
Protein change:
R395*
Molecular consequence:
  • NM_001362836.2:c.1420C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001362837.2:c.1183C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012082.4:c.1579C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004014070GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Apr 7, 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, SCV004014070.2

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

Description

Nonsense variant predicted to result in protein truncation, as the last 625 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; 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

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

Last Updated: Oct 8, 2024