NM_002448.3(MSX1):c.682_683del (p.Lys228fs) AND Tooth agenesis, selective, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 4, 2022
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:: RCV002222195.1

Allele description [Variation Report for NM_002448.3(MSX1):c.682_683del (p.Lys228fs)]

NM_002448.3(MSX1):c.682_683del (p.Lys228fs)

Gene:

MSX1:msh homeobox 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_002448.3(MSX1):c.682_683del (p.Lys228fs)

HGVS:

NC_000004.12:g.4862913_4862914del
NG_008121.1:g.8249_8250del
NM_002448.3:c.682_683delMANE SELECT
NP_002439.2:p.Lys228fs
LRG_1342t1:c.682_683del
LRG_1342:g.8249_8250del
LRG_1342p1:p.Lys228fs
NC_000004.11:g.4864639_4864640del
NC_000004.11:g.4864640_4864641del

Protein change:

K228fs

Links:

dbSNP: rs1737950636

NCBI 1000 Genomes Browser:

rs1737950636

Molecular consequence:

NM_002448.3:c.682_683del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Tooth agenesis, selective, 1
Synonyms:: HYPODONTIA/OLIGODONTIA 1; SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF
Identifiers:: MONDO: MONDO:0007129; MedGen: C3489529; Orphanet: 99798; OMIM: 106600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002499686	Institute of Human Genetics, University Hospital Muenster	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 4, 2022)	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

SCV002499686

Institute of Human Genetics, University Hospital Muenster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 4, 2022)

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	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 Hospital Muenster, SCV002499686.1

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

Description

ACMG categories: PVS1

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

Last Updated: Sep 29, 2024

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