NM_001146079.2(CLDN14):c.343A>G (p.Thr115Ala) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 31, 2022
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:: RCV002833476.3

Allele description [Variation Report for NM_001146079.2(CLDN14):c.343A>G (p.Thr115Ala)]

NM_001146079.2(CLDN14):c.343A>G (p.Thr115Ala)

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.343A>G (p.Thr115Ala)

HGVS:

NC_000021.9:g.36461353T>C
NG_011777.1:g.120217A>G
NM_001146077.2:c.343A>G
NM_001146078.3:c.343A>G
NM_001146079.2:c.343A>GMANE SELECT
NM_012130.4:c.343A>G
NM_144492.3:c.343A>G
NP_001139549.1:p.Thr115Ala
NP_001139550.1:p.Thr115Ala
NP_001139551.1:p.Thr115Ala
NP_036262.1:p.Thr115Ala
NP_652763.1:p.Thr115Ala
NC_000021.8:g.37833651T>C

Protein change:

T115A

Molecular consequence:

NM_001146077.2:c.343A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001146078.3:c.343A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001146079.2:c.343A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012130.4:c.343A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_144492.3:c.343A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens butyrophilin-like 2 (MHC class II associated), mRNA (cDNA clone MGC...
Homo sapiens butyrophilin-like 2 (MHC class II associated), mRNA (cDNA clone MGC:157676 IMAGE:40116164), complete cds
gi|118341456|gb|BC127642.1|

Nucleotide
LOC106461030 [Limulus polyphemus]
LOC106461030 [Limulus polyphemus]
Gene ID:106461030

Gene
ACAT1 [Ochotona princeps]
ACAT1 [Ochotona princeps]
Gene ID:101532131

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003213977	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 31, 2022)	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

SCV003213977

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 31, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003213977.2

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

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 115 of the CLDN14 protein (p.Thr115Ala). This variant has not been reported in the literature in individuals affected with CLDN14-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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

Last Updated: Sep 29, 2024

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