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NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 21, 2019
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:
RCV002348062.3

Allele description [Variation Report for NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)]

NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)

Gene:
ZNF469:zinc finger protein 469 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)
Other names:
NM_001127464.1:c.5464C>A; NM_001127464.2:c.5464C>A
HGVS:
  • NC_000016.10:g.88433018C>A
  • NG_012236.2:g.10548C>A
  • NM_001367624.2:c.5548C>AMANE SELECT
  • NP_001354553.1:p.Pro1850Thr
  • NC_000016.9:g.88499426C>A
Protein change:
P1850T
Links:
dbSNP: rs199932922
NCBI 1000 Genomes Browser:
rs199932922
Molecular consequence:
  • NM_001367624.2:c.5548C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002649749Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 21, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE.

Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3.

PubMed [citation]
PMID:
24895405
PMCID:
PMC4168824

Details of each submission

From Ambry Genetics, SCV002649749.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024