NM_001039570.3(KREMEN1):c.460C>T (p.Arg154Trp) AND Ectodermal dysplasia 13, hair/tooth type

Germline classification:: Uncertain significance (1 submission)
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:: RCV003493394.1

Allele description [Variation Report for NM_001039570.3(KREMEN1):c.460C>T (p.Arg154Trp)]

NM_001039570.3(KREMEN1):c.460C>T (p.Arg154Trp)

Gene:

KREMEN1:kringle containing transmembrane protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_001039570.3(KREMEN1):c.460C>T (p.Arg154Trp)

HGVS:

NC_000022.11:g.29121464C>T
NG_052986.1:g.53387C>T
NM_001039570.3:c.460C>TMANE SELECT
NM_001039571.1:c.460C>T
NM_032045.5:c.460C>T
NP_001034659.2:p.Arg154Trp
NP_001034660.1:p.Arg154Trp
NP_114434.3:p.Arg154Trp
NC_000022.10:g.29517452C>T

Protein change:

R154W

Molecular consequence:

NM_001039570.3:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001039571.1:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032045.5:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Ectodermal dysplasia 13, hair/tooth type (ECTD13)
Identifiers:: MONDO: MONDO:0044305; MedGen: C4479322; OMIM: 617392

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004232632	Institute of Human Genetics, University of Goettingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	maternal	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

SCV004232632

Institute of Human Genetics, University of Goettingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

maternal

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	maternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

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 Institute of Human Genetics, University of Goettingen, SCV004232632.1

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

Description

ACMG criteria PM2, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 14, 2024

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