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NM_001136273.2(ZFP92):c.1243C>T (p.Arg415Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 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:
RCV004486148.1

Allele description [Variation Report for NM_001136273.2(ZFP92):c.1243C>T (p.Arg415Cys)]

NM_001136273.2(ZFP92):c.1243C>T (p.Arg415Cys)

Gene:
ZFP92:ZFP92 zinc finger protein [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001136273.2(ZFP92):c.1243C>T (p.Arg415Cys)
HGVS:
  • NC_000023.11:g.153421620C>T
  • NM_001136273.2:c.1243C>TMANE SELECT
  • NM_001386943.1:c.1117C>T
  • NM_001386944.1:c.1243C>T
  • NM_001386945.1:c.1243C>T
  • NP_001129745.1:p.Arg415Cys
  • NP_001373872.1:p.Arg373Cys
  • NP_001373873.1:p.Arg415Cys
  • NP_001373874.1:p.Arg415Cys
  • NC_000023.10:g.152687078C>T
  • NM_001136273.1:c.1243C>T
Protein change:
R373C
Molecular consequence:
  • NM_001136273.2:c.1243C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386943.1:c.1117C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386944.1:c.1243C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386945.1:c.1243C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004983913Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 13, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004983913.1

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

Description

The c.1243C>T (p.R415C) alteration is located in exon 4 (coding exon 4) of the ZFP92 gene. This alteration results from a C to T substitution at nucleotide position 1243, causing the arginine (R) at amino acid position 415 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024