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NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2017
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:
RCV000488930.1

Allele description [Variation Report for NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu)]

NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu)

Gene:
ZNF423:zinc finger protein 423 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.1
Genomic location:
Preferred name:
NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu)
HGVS:
  • NC_000016.10:g.49635709G>A
  • NG_032972.2:g.227211C>T
  • NM_001271620.2:c.3263C>T
  • NM_001330533.2:c.3092C>T
  • NM_001379286.1:c.3467C>TMANE SELECT
  • NM_015069.5:c.3443C>T
  • NP_001258549.1:p.Pro1088Leu
  • NP_001317462.1:p.Pro1031Leu
  • NP_001366215.1:p.Pro1156Leu
  • NP_055884.2:p.Pro1148Leu
  • NC_000016.9:g.49669620G>A
  • NM_015069.3:c.3443C>T
Protein change:
P1031L
Links:
dbSNP: rs756742718
NCBI 1000 Genomes Browser:
rs756742718
Molecular consequence:
  • NM_001271620.2:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330533.2:c.3092C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379286.1:c.3467C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015069.5:c.3443C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000576637GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Apr 25, 2017)
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, SCV000576637.4

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

Description

The P1148L variant in the ZNF423 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1148L variant is observed in 14/11518 (0.12%) alleles from individuals of Latino background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P1148L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P1148L as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024