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NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) AND not specified

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Apr 30, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000420171.2

Allele description [Variation Report for NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)]

NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)

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.6470G>A (p.Arg2157Lys)
Other names:
NM_001127464.1:c.6386G>A
HGVS:
  • NC_000016.10:g.88433940G>A
  • NG_012236.2:g.11470G>A
  • NM_001367624.2:c.6470G>AMANE SELECT
  • NP_001354553.1:p.Arg2157Lys
  • NC_000016.9:g.88500348G>A
Protein change:
R2157K
Links:
dbSNP: rs13334190
NCBI 1000 Genomes Browser:
rs13334190
Molecular consequence:
  • NM_001367624.2:c.6470G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000524306GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(Oct 10, 2016)
germlineclinical testing

Citation Link,

SCV001623116Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Apr 30, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000524306.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001623116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024