NM_001399.5(EDA):c.626C>T (p.Pro209Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 3, 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:: RCV000154610.4

Allele description [Variation Report for NM_001399.5(EDA):c.626C>T (p.Pro209Leu)]

NM_001399.5(EDA):c.626C>T (p.Pro209Leu)

Gene:

EDA:ectodysplasin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_001399.5(EDA):c.626C>T (p.Pro209Leu)

HGVS:

NC_000023.11:g.70027956C>T
NG_009809.2:g.416890C>T
NM_001005609.2:c.626C>T
NM_001005612.3:c.626C>T
NM_001399.5:c.626C>TMANE SELECT
NP_001005609.1:p.Pro209Leu
NP_001005612.2:p.Pro209Leu
NP_001390.1:p.Pro209Leu
NC_000023.10:g.69247806C>T
NM_001399.4:c.626C>T
Q92838:p.Pro209Leu

Protein change:

P209L; PRO209LEU

Links:

UniProtKB: Q92838#VAR_005185; OMIM: 300451.0008; dbSNP: rs132630315

NCBI 1000 Genomes Browser:

rs132630315

Molecular consequence:

NM_001005609.2:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001005612.3:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001399.5:c.626C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

thioesterase-like superfamily protein [Burkholderia vietnamiensis LMG 10929]
thioesterase-like superfamily protein [Burkholderia vietnamiensis LMG 10929]
gi|773001989|gnl|LANL|AK36_3370|gb| 143.1|

Protein

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
SCV000204283	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jul 3, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9683615, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000204283

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jul 3, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

Monreal AW, Zonana J, Ferguson B.

Am J Hum Genet. 1998 Aug;63(2):380-9. Erratum in: Am J Hum Genet 1998 Oct;63(4):1253-5.

PubMed [citation]

PMID:: 9683615
PMCID:: PMC1377324

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, SCV000204283.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The Pro209Leu v ariant in EDA has been reported in one male individual with X-linked hypohidroti c ectodermal dysplasia (XLHED) and was absent from 60 control X chromosomes (Mon real 1998). The variant was also absent in large population studies. Proline (Pr o) at position 209 is highly conserved in mammals and evolutionarily distant spe cies, supporting that a change at this position may not be tolerated. Additional computational prediction tools suggest that this variant may impact the protein , though this information is not predictive enough to determine pathogenicity. I n summary, while there is some suspicion for a pathogenic role, the clinical sig nificance of the Pro209Leu 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: Sep 29, 2024

ClinVar

Relating variation to medicine