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NM_012082.4(ZFPM2):c.1520T>C (p.Ile507Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 24, 2018
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:
RCV000522745.2

Allele description [Variation Report for NM_012082.4(ZFPM2):c.1520T>C (p.Ile507Thr)]

NM_012082.4(ZFPM2):c.1520T>C (p.Ile507Thr)

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.1520T>C (p.Ile507Thr)
HGVS:
  • NC_000008.11:g.105801602T>C
  • NG_011723.1:g.487684T>C
  • NG_011723.2:g.487684T>C
  • NM_001362836.2:c.1361T>C
  • NM_001362837.2:c.1124T>C
  • NM_012082.4:c.1520T>CMANE SELECT
  • NP_001349765.1:p.Ile454Thr
  • NP_001349766.1:p.Ile375Thr
  • NP_036214.2:p.Ile507Thr
  • NC_000008.10:g.106813830T>C
  • NM_012082.3:c.1520T>C
Protein change:
I375T
Links:
dbSNP: rs1194484043
NCBI 1000 Genomes Browser:
rs1194484043
Molecular consequence:
  • NM_001362836.2:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362837.2:c.1124T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012082.4:c.1520T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000618588GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 24, 2018) 		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, SCV000618588.2

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

Description

The I507T variant in the ZFPM2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I507T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I507T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret I507T as a variant of uncertain significance.

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

Last Updated: Apr 23, 2022