NM_022336.4(EDAR):c.931del (p.Glu311fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 3, 2023
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:: RCV003815587.2

Allele description [Variation Report for NM_022336.4(EDAR):c.931del (p.Glu311fs)]

NM_022336.4(EDAR):c.931del (p.Glu311fs)

Genes:

RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
EDAR:ectodysplasin A receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q13

Genomic location:

Preferred name:

NM_022336.4(EDAR):c.931del (p.Glu311fs)

HGVS:

NC_000002.12:g.108907894del
NG_008257.1:g.86481del
NG_012210.2:g.193414del
NM_022336.4:c.931delMANE SELECT
NP_071731.1:p.Glu311fs
NC_000002.11:g.109524348del
NC_000002.11:g.109524350del

Protein change:

E311fs

Molecular consequence:

NM_022336.4:c.931del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A)
Synonyms:: Ectodermal Dysplasia 3, Anhidrotic
Identifiers:: MONDO: MONDO:0007509; MedGen: C3888065; Orphanet: 1810; Orphanet: 238468; OMIM: 129490

Name:: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Synonyms:: Autosomal recessive hypohidrotic ectodermal dysplasia
Identifiers:: MONDO: MONDO:0016619; MedGen: C0406702

Recent activity

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Medicare
Medicare
Federal program, created by Public Law 89-97, Title XVIII-Health Insurance for the Aged, a 1965 amendment to the Social Security Act, that provides health insurance benefits t...<br/>Year introduced: 1991

MeSH
tubb3.L tubulin beta 3 class III L homeolog [Xenopus laevis]
tubb3.L tubulin beta 3 class III L homeolog [Xenopus laevis]
Gene ID:495319

Gene
BP696280 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
BP696280 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus laevis cDNA clone XL479o19ex 5', mRNA sequence
gi|54628439|gnl|dbEST|26203481|dbj| 280.2|

Nucleotide
JGI_CABI1846.rev NIH_XGC_tropOvi1 Xenopus tropicalis cDNA clone CABI1846 3', mRN...
JGI_CABI1846.rev NIH_XGC_tropOvi1 Xenopus tropicalis cDNA clone CABI1846 3', mRNA sequence
gi|71567888|gnl|dbEST|30398299|gb|D 75.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004606092	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 3, 2023)	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

SCV004606092

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 3, 2023)

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, SCV004606092.1

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

Description

This sequence change creates a premature translational stop signal (p.Glu311Argfs*61) in the EDAR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 138 amino acid(s) of the EDAR protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EDAR-related conditions. This variant disrupts a region of the EDAR protein in which other variant(s) (p.Glu433*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#	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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