NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 10, 2017
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:: RCV000600618.4

Allele description [Variation Report for NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr)]

NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr)

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.337G>A (p.Ala113Thr)

HGVS:

NC_000021.9:g.36461359C>T
NG_011777.1:g.120211G>A
NM_001146077.2:c.337G>A
NM_001146078.3:c.337G>A
NM_001146079.2:c.337G>AMANE SELECT
NM_012130.4:c.337G>A
NM_144492.3:c.337G>A
NP_001139549.1:p.Ala113Thr
NP_001139549.1:p.Ala113Thr
NP_001139550.1:p.Ala113Thr
NP_001139551.1:p.Ala113Thr
NP_036262.1:p.Ala113Thr
NP_652763.1:p.Ala113Thr
NC_000021.8:g.37833657C>T
NM_001146077.1:c.337G>A

Protein change:

A113T

Links:

dbSNP: rs138631461

NCBI 1000 Genomes Browser:

rs138631461

Molecular consequence:

NM_001146077.2:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001146078.3:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001146079.2:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012130.4:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_144492.3:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000710993	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Aug 10, 2017)	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

SCV000710993

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Aug 10, 2017)

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, SCV000710993.1

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

Description

The p.Ala113Thr variant in CLDN14 has not been previously reported in individual s with hearing loss, but has been identified in 1/15172 African and in 1/107834 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs138631461). Although this variant has been seen in t he general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that thi s variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p .Ala113Thr variant 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

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