NM_001399.5(EDA):c.585_697del (p.Pro196fs) AND Hypohidrotic X-linked ectodermal dysplasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 5, 2018
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:: RCV001389804.6

Allele description [Variation Report for NM_001399.5(EDA):c.585_697del (p.Pro196fs)]

NM_001399.5(EDA):c.585_697del (p.Pro196fs)

Gene:

EDA:ectodysplasin A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_001399.5(EDA):c.585_697del (p.Pro196fs)

HGVS:

NC_000023.10:g.69247757_69247869del
NC_000023.11:g.70027915_70028027del
NG_009809.2:g.416849_416961del
NM_001005609.2:c.585_697del
NM_001005612.3:c.585_697del
NM_001399.5:c.585_697delMANE SELECT
NP_001005609.1:p.Pro196fs
NP_001005612.2:p.Pro196fs
NP_001390.1:p.Pro196fs
NC_000023.10:g.69247757_69247869del
NC_000023.10:g.69247757_69247869delCCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG
NC_000023.10:g.69247765_69247877del

Protein change:

P196fs

Links:

dbSNP: rs2147509660

NCBI 1000 Genomes Browser:

rs2147509660

Molecular consequence:

NM_001005609.2:c.585_697del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001005612.3:c.585_697del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001399.5:c.585_697del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hypohidrotic X-linked ectodermal dysplasia (XHED)
Synonyms:: ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; Anhidrotic ectodermal dysplasia X-linked; Christ Siemens Touraine syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010585; MedGen: C0162359; Orphanet: 181; Orphanet: 238468; OMIM: 305100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001591285	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 5, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9683615, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001591285

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 5, 2018)

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	unknown	not provided	not provided	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

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, SCV001591285.3

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

Description

This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro196Thrfs*6) in the EDA gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with EDA-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615).

#	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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