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NM_152750.5(CDHR3):c.2162T>C (p.Ile721Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 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:
RCV004286796.1

Allele description [Variation Report for NM_152750.5(CDHR3):c.2162T>C (p.Ile721Thr)]

NM_152750.5(CDHR3):c.2162T>C (p.Ile721Thr)

Gene:
CDHR3:cadherin related family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_152750.5(CDHR3):c.2162T>C (p.Ile721Thr)
HGVS:
  • NC_000007.14:g.106024466T>C
  • NM_001301161.2:c.1898T>C
  • NM_152750.5:c.2162T>CMANE SELECT
  • NP_001288090.1:p.Ile633Thr
  • NP_689963.2:p.Ile721Thr
  • NC_000007.13:g.105664912T>C
  • NM_152750.4:c.2162T>C
Protein change:
I633T
Molecular consequence:
  • NM_001301161.2:c.1898T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152750.5:c.2162T>C - 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
SCV003913252Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 2, 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, SCV003913252.2

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

Description

The c.2162T>C (p.I721T) alteration is located in exon 15 (coding exon 15) of the CDHR3 gene. This alteration results from a T to C substitution at nucleotide position 2162, causing the isoleucine (I) at amino acid position 721 to be replaced by a threonine (T). 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 3, 2024