NM_022124.6(CDH23):c.1449+130T>C AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jun 1, 2017
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:: RCV000039103.6

Allele description [Variation Report for NM_022124.6(CDH23):c.1449+130T>C]

NM_022124.6(CDH23):c.1449+130T>C

Gene:

CDH23:cadherin related 23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_022124.6(CDH23):c.1449+130T>C

HGVS:

NC_000010.11:g.71646747T>C
NG_008835.1:g.254801T>C
NM_001171930.2:c.1449+130T>C
NM_001171931.2:c.1449+130T>C
NM_022124.6:c.1449+130T>CMANE SELECT
NM_052836.4:c.1579T>C
NP_443068.1:p.Leu527=
NC_000010.10:g.73406504T>C
NM_022124.5:c.1449+130T>C
NM_052836.3:c.1579T>C
c.1449+130T>C
p.Leu527Leu

Links:

dbSNP: rs2305209

NCBI 1000 Genomes Browser:

rs2305209

Molecular consequence:

NM_001171930.2:c.1449+130T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001171931.2:c.1449+130T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_022124.6:c.1449+130T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_052836.4:c.1579T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

569

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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very-long-chain enoyl-CoA reductase isoform 1 [Mus musculus]
very-long-chain enoyl-CoA reductase isoform 1 [Mus musculus]
gi|19923070|ref|NP_598879.1|

Protein
FOA43_003055 [Brettanomyces nanus]
FOA43_003055 [Brettanomyces nanus]
Gene ID:62196456

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000062785	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Apr 17, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000731164	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jun 1, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000062785

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Apr 17, 2012)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000731164

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jun 1, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	580	569	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062785.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	580	not provided	not provided	clinical testing	PubMed (1)

Description

Leu527Leu in exon 14A of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, it is not located wi th the splice consensus sequence, and has been identified in 1376/8220 (16.8%) E uropean American chromosomes and 423/3790 (11.2%) African American chromosomes b y the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu; dbSNP rs2305 209).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		580	not provided	569	not provided

From GeneDx, SCV000731164.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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