NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 26, 2015
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:: RCV000215729.4

Allele description [Variation Report for NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr)]

NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr)

Genes:

CLDN14-AS1:CLDN14 antisense RNA 1 [Gene - HGNC]
CLDN14:claudin 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

Preferred name:

NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr)

HGVS:

NC_000021.9:g.36461137C>A
NG_011777.1:g.120433G>T
NM_001146077.2:c.559G>T
NM_001146078.3:c.559G>T
NM_001146079.2:c.559G>TMANE SELECT
NM_012130.4:c.559G>T
NM_144492.3:c.559G>T
NP_001139549.1:p.Asp187Tyr
NP_001139549.1:p.Asp187Tyr
NP_001139550.1:p.Asp187Tyr
NP_001139551.1:p.Asp187Tyr
NP_036262.1:p.Asp187Tyr
NP_652763.1:p.Asp187Tyr
NC_000021.8:g.37833435C>A
NM_001146077.1:c.559G>T
NM_144492.2:c.559G>T

Protein change:

D187Y

Links:

dbSNP: rs375904468

NCBI 1000 Genomes Browser:

rs375904468

Molecular consequence:

NM_001146077.2:c.559G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001146078.3:c.559G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001146079.2:c.559G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_012130.4:c.559G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_144492.3:c.559G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000271587	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Feb 26, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000271587

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Feb 26, 2015)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	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, SCV000271587.2

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

Description

The p.Asp187Tyr variant in CLDN14 has not been previously reported in individual s with hearing loss. This variant has been identified in 3/10364 of African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs375904468). Although this variant has been seen in the general popu lation, its frequency is not high enough to rule out a pathogenic role. Computat ional prediction tools and conservation analysis suggest that this variant may n ot impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Asp187Tyr vari ant is uncertain.

#	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		1	not provided	1	not provided

Last Updated: Mar 26, 2023

ClinVar

Relating variation to medicine