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NM_003672.4(CDC14A):c.1546C>T (p.Leu516Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 31, 2022
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:
RCV002865903.2

Allele description [Variation Report for NM_003672.4(CDC14A):c.1546C>T (p.Leu516Phe)]

NM_003672.4(CDC14A):c.1546C>T (p.Leu516Phe)

Gene:
CDC14A:cell division cycle 14A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_003672.4(CDC14A):c.1546C>T (p.Leu516Phe)
HGVS:
  • NC_000001.11:g.100499053C>T
  • NG_051602.2:g.159053C>T
  • NM_001319210.2:c.1546C>T
  • NM_001319211.2:c.1372C>T
  • NM_001319212.2:c.667C>T
  • NM_003672.4:c.1546C>TMANE SELECT
  • NM_033312.3:c.1546C>T
  • NP_001306139.1:p.Leu516Phe
  • NP_001306140.1:p.Leu458Phe
  • NP_001306141.1:p.Leu223Phe
  • NP_003663.2:p.Leu516Phe
  • NP_201569.1:p.Leu516Phe
  • LRG_1418t1:c.1546C>T
  • LRG_1418:g.159053C>T
  • LRG_1418p1:p.Leu516Phe
  • NC_000001.10:g.100964609C>T
  • NM_033312.2:c.1546C>T
Protein change:
L223F
Molecular consequence:
  • NM_001319210.2:c.1546C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319211.2:c.1372C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319212.2:c.667C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003672.4:c.1546C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033312.3:c.1546C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003631528Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 31, 2022) 		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, SCV003631528.2

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

Description

The c.1546C>T (p.L516F) alteration is located in exon 15 (coding exon 15) of the CDC14A gene. This alteration results from a C to T substitution at nucleotide position 1546, causing the leucine (L) at amino acid position 516 to be replaced by a phenylalanine (F). Based on data from gnomAD, the T allele has an overall frequency of <0.01% (1/251136) total alleles studied. The highest observed frequency was 0.01% (1/16246) of African alleles. This amino acid position is not well conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. 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 1, 2024