NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Ectodermal dysplasia

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 1, 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:: RCV001729336.11

Allele description [Variation Report for NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)]

NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)

Gene:

WNT10A:Wnt family member 10A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)

HGVS:

NC_000002.12:g.218890289T>A
NG_012179.1:g.14757T>A
NM_025216.3:c.682T>AMANE SELECT
NP_079492.2:p.Phe228Ile
NC_000002.11:g.219755011T>A
NM_025216.2:c.682T>A
Q9GZT5:p.Phe228Ile

Protein change:

F228I; PHE228ILE

Links:

UniProtKB: Q9GZT5#VAR_062511; OMIM: 606268.0003; dbSNP: rs121908120

NCBI 1000 Genomes Browser:

rs121908120

Molecular consequence:

NM_025216.3:c.682T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ectodermal dysplasia
Synonyms:: Ectodermal dysplasia syndrome
Identifiers:: MONDO: MONDO:0019287; MedGen: C0013575; OMIM: PS305100; Human Phenotype Ontology: HP:0000968

Recent activity

Clear Turn Off Turn On

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
SCV001977603	GeneReviews	no classification provided	not provided	germline	literature only
SCV004123096	Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 1, 2023)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001977603

GeneReviews

no classification provided

not provided

germline

literature only

SCV004123096

Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 1, 2023)

germline

research

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	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneReviews, SCV001977603.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

#	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

From Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand, SCV004123096.1

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

#	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: Nov 24, 2024

ClinVar

Relating variation to medicine