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NM_144985.4(CDH24):c.2059C>T (p.Arg687Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 2021
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:
RCV004083010.1

Allele description [Variation Report for NM_144985.4(CDH24):c.2059C>T (p.Arg687Trp)]

NM_144985.4(CDH24):c.2059C>T (p.Arg687Trp)

Gene:
CDH24:cadherin 24 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_144985.4(CDH24):c.2059C>T (p.Arg687Trp)
HGVS:
  • NC_000014.9:g.23048267G>A
  • NM_022478.4:c.2173C>T
  • NM_144985.4:c.2059C>TMANE SELECT
  • NP_071923.2:p.Arg725Trp
  • NP_659422.2:p.Arg687Trp
  • NC_000014.8:g.23517476G>A
  • NM_022478.3:c.2173C>T
Protein change:
R687W
Molecular consequence:
  • NM_022478.4:c.2173C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144985.4:c.2059C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003536945Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 12, 2021) 		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, SCV003536945.2

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

Description

The c.2173C>T (p.R725W) alteration is located in exon 13 (coding exon 12) of the CDH24 gene. This alteration results from a C to T substitution at nucleotide position 2173, causing the arginine (R) at amino acid position 725 to be replaced by a tryptophan (W). 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: Nov 10, 2024