NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 23, 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:: RCV003801221.1

Allele description [Variation Report for NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)]

NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)

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.1174_1185del (p.Thr392_Met395del)

HGVS:

NC_000002.12:g.108897075_108897086del
NG_008257.1:g.97293_97304del
NG_012210.2:g.182595_182606del
NM_022336.4:c.1174_1185delMANE SELECT
NP_071731.1:p.Thr392_Met395del
NC_000002.11:g.109513525_109513536del
NC_000002.11:g.109513531_109513542del

Molecular consequence:

NM_022336.4:c.1174_1185del - inframe_deletion - [Sequence Ontology: SO:0001822]

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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V(D)J recombination-activating protein 1 [Homo sapiens]
V(D)J recombination-activating protein 1 [Homo sapiens]
gi|1787508892|ref|NP_001364208.1|

Protein
large ribosomal subunit protein uL18m isoform 2 [Homo sapiens]
large ribosomal subunit protein uL18m isoform 2 [Homo sapiens]
gi|974005338|ref|NP_001305746.1|

Protein
Zea mays
Zea mays
Zea mays Genome sequencing and assembly

BioProject
Zea mays subsp. mays
Zea mays subsp. mays
Deep DNA resequencing of the association mapping panel

BioProject
Triphalangeal hallux
Triphalangeal hallux

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004594075	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 23, 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

SCV004594075

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 23, 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 Invitae, SCV004594075.1

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

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with EDAR-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1174_1185del, results in the deletion of 4 amino acid(s) of the EDAR protein (p.Thr392_Met395del), but otherwise preserves the integrity of the reading frame.

#	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: Mar 5, 2024

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