U.S. flag

An official website of the United States government

NM_002448.3(MSX1):c.471G>T (p.Arg157Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490415.1

Allele description [Variation Report for NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)]

NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)

Gene:
MSX1:msh homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)
HGVS:
  • NC_000004.12:g.4862702G>T
  • NG_008121.1:g.8038G>T
  • NM_002448.3:c.471G>TMANE SELECT
  • NP_002439.2:p.Arg157Ser
  • LRG_1342t1:c.471G>T
  • LRG_1342:g.8038G>T
  • LRG_1342p1:p.Arg157Ser
  • NC_000004.11:g.4864429G>T
Protein change:
R157S
Links:
dbSNP: rs150284621
NCBI 1000 Genomes Browser:
rs150284621
Molecular consequence:
  • NM_002448.3:c.471G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Orofacial cleft 5 (OFC5)
Synonyms:
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5
Identifiers:
MONDO: MONDO:0012142; MedGen: C1837210; OMIM: 608874
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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267402Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 18, 2016) 		germlinereference population

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown3not providednot providednot providednot providedreference population

Citations

PubMed

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.

Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, Christensen K, Orioli IM, Castilla EE, Machida J, Natsume N, Murray JC.

J Med Genet. 2003 Jun;40(6):399-407.

PubMed [citation]
PMID:
12807959
PMCID:
PMC1735501

Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.

Kamamoto M, Machida J, Yamaguchi S, Kimura M, Ono T, Jezewski PA, Higashi Y, Nakayama A, Shimozato K, Tokita Y.

Eur J Hum Genet. 2011 Aug;19(8):844-50. doi: 10.1038/ejhg.2011.47. Epub 2011 Mar 30.

PubMed [citation]
PMID:
21448236
PMCID:
PMC3172929
See all PubMed Citations (3)

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267402.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian3not providednot providedreference population PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Sep 8, 2024