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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

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

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