NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 2013
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:
RCV000039143.5

Allele description [Variation Report for NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)]

NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)

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.3133G>T (p.Val1045Leu)
HGVS:
  • NC_000010.11:g.71709124G>T
  • NG_008835.1:g.317178G>T
  • NM_001171930.2:c.3133G>T
  • NM_022124.6:c.3133G>TMANE SELECT
  • NP_001165401.1:p.Val1045Leu
  • NP_071407.4:p.Val1045Leu
  • NC_000010.10:g.73468881G>T
  • NM_022124.5:c.3133G>T
  • c.3133G>T
Protein change:
V1045L
Links:
dbSNP: rs377100683
NCBI 1000 Genomes Browser:
rs377100683
Molecular consequence:
  • NM_001171930.2:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000062827Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Feb 22, 2013) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical 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, SCV000062827.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Val1045Leu variant in CDH23 has not been reported in the literature nor prev iously identified by our laboratory. This variant has been identified in 0.05% ( 2/4268) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/). Although this variant h as been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (biochemical amino acid propertie s, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support f or or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024