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NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 23, 2023
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:
RCV002370586.2

Allele description [Variation Report for NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)]

NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)

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.941C>T (p.Pro314Leu)
Other names:
NM_001127464.1:c.941C>T; NM_001127464.2:c.941C>T
HGVS:
  • NC_000016.10:g.88428411C>T
  • NG_012236.2:g.5941C>T
  • NM_001367624.2:c.941C>TMANE SELECT
  • NP_001354553.1:p.Pro314Leu
  • NC_000016.9:g.88494819C>T
Protein change:
P314L
Links:
dbSNP: rs777666112
NCBI 1000 Genomes Browser:
rs777666112
Molecular consequence:
  • NM_001367624.2:c.941C>T - 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
SCV002687143Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 23, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002687143.2

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

Description

The c.941C>T (p.P314L) alteration is located in exon 1 (coding exon 1) of the ZNF469 gene. This alteration results from a C to T substitution at nucleotide position 941, causing the proline (P) at amino acid position 314 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 12, 2024