NM_001146079.2(CLDN14):c.427G>A (p.Val143Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 15, 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:: RCV003235603.1

Allele description [Variation Report for NM_001146079.2(CLDN14):c.427G>A (p.Val143Met)]

NM_001146079.2(CLDN14):c.427G>A (p.Val143Met)

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.427G>A (p.Val143Met)

HGVS:

NC_000021.9:g.36461269C>T
NG_011777.1:g.120301G>A
NM_001146077.2:c.427G>A
NM_001146078.3:c.427G>A
NM_001146079.2:c.427G>AMANE SELECT
NM_012130.4:c.427G>A
NM_144492.2:c.427G>A
NM_144492.3:c.427G>A
NP_001139549.1:p.Val143Met
NP_001139550.1:p.Val143Met
NP_001139551.1:p.Val143Met
NP_036262.1:p.Val143Met
NP_652763.1:p.Val143Met
NC_000021.8:g.37833567C>T
NM_001146077.1:c.427G>A

Protein change:

V143M

Links:

dbSNP: rs776564488

NCBI 1000 Genomes Browser:

rs776564488

Molecular consequence:

NM_001146077.2:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001146078.3:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001146079.2:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012130.4:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_144492.3:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003932892	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 15, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003932892

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 15, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003932892.1

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

Description

Reported without a second variant in multiple individuals belonging to a single family with chorodial Vein of Galen malformations in published literature (Duran et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 30578106)

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

Last Updated: Apr 7, 2025

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