U.S. flag

An official website of the United States government

NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2014
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:
RCV000155060.4

Allele description [Variation Report for NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe)]

NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe)

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.10018C>T (p.Leu3340Phe)
HGVS:
  • NC_000010.11:g.71815231C>T
  • NG_008835.1:g.423285C>T
  • NG_009301.1:g.41095G>A
  • NM_001171933.1:c.3298C>T
  • NM_001171934.1:c.3193C>T
  • NM_001171935.1:c.709C>T
  • NM_001171936.1:c.604C>T
  • NM_022124.6:c.10018C>TMANE SELECT
  • NP_001165404.1:p.Leu1100Phe
  • NP_001165405.1:p.Leu1065Phe
  • NP_001165406.1:p.Leu237Phe
  • NP_001165407.1:p.Leu202Phe
  • NP_071407.4:p.Leu3340Phe
  • NC_000010.10:g.73574988C>T
  • NM_022124.5:c.10018C>T
Protein change:
L1065F
Links:
dbSNP: rs376537401
NCBI 1000 Genomes Browser:
rs376537401
Molecular consequence:
  • NM_001171933.1:c.3298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171934.1:c.3193C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171935.1:c.709C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171936.1:c.604C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.10018C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000204744Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 16, 2014) 		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, SCV000204744.4

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

Description

Variant classified as Uncertain Significance - Favor Benign. The Leu3340Phe vari ant in CDH23 has not been reported in individuals with hearing loss, but has bee n identified in 0.01% (1/8436) of European American chromosomes by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/). The amino acid (Leu) at position 3340 is not conserved in mammals or evolutionary distant species, ra ising the possibility that a change at this position may be tolerated. Additiona l computational prediction tools suggest that the Leu3340Phe variant may not imp act the protein, though this information is not predictive enough to rule out pa thogenicity. In summary, while the clinical significance of the Leu3340Phe varia nt it is uncertain, the conservation data suggests that it is more likely to be benign.

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

Last Updated: Feb 7, 2023