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NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 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:
RCV002515559.2

Allele description [Variation Report for NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)]

NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)

Gene:
ZNF687:zinc finger protein 687 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)
HGVS:
  • NC_000001.11:g.151289853C>G
  • NG_051575.1:g.13299C>G
  • NM_001304763.2:c.2810C>G
  • NM_001304764.2:c.2810C>G
  • NM_020832.3:c.2810C>GMANE SELECT
  • NP_001291692.1:p.Pro937Arg
  • NP_001291693.1:p.Pro937Arg
  • NP_065883.1:p.Pro937Arg
  • NC_000001.10:g.151262329C>G
  • NM_020832.2:c.2810C>G
  • Q8N1G0:p.Pro937Arg
Protein change:
P937R; PRO937ARG
Links:
UniProtKB: Q8N1G0#VAR_076535; OMIM: 610568.0001; dbSNP: rs148402804
NCBI 1000 Genomes Browser:
rs148402804
Molecular consequence:
  • NM_001304763.2:c.2810C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304764.2:c.2810C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020832.3:c.2810C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003260738Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 6, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.

Divisato G, Formicola D, Esposito T, Merlotti D, Pazzaglia L, Del Fattore A, Siris E, Orcel P, Brown JP, Nuti R, Strazzullo P, Benassi MS, Cancela ML, Michou L, Rendina D, Gennari L, Gianfrancesco F.

Am J Hum Genet. 2016 Feb 4;98(2):275-86. doi: 10.1016/j.ajhg.2015.12.016.

PubMed [citation]
PMID:
26849110
PMCID:
PMC4746367

ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.

Divisato G, Scotto di Carlo F, Petrillo N, Esposito T, Gianfrancesco F.

Clin Genet. 2018 Jun;93(6):1240-1244. doi: 10.1111/cge.13247. Epub 2018 Apr 11.

PubMed [citation]
PMID:
29493781
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003260738.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 937 of the ZNF687 protein (p.Pro937Arg). This variant is present in population databases (rs148402804, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with Paget disease (PMID: 26849110, 29493781). ClinVar contains an entry for this variant (Variation ID: 222987). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Apr 15, 2024