NM_001202.6(BMP4):c.184C>G (p.Leu62Val) AND Orofacial cleft 11

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 8, 2020
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:: RCV001706899.1

Allele description [Variation Report for NM_001202.6(BMP4):c.184C>G (p.Leu62Val)]

NM_001202.6(BMP4):c.184C>G (p.Leu62Val)

Gene:

BMP4:bone morphogenetic protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

Preferred name:

NM_001202.6(BMP4):c.184C>G (p.Leu62Val)

HGVS:

NC_000014.9:g.53952039G>C
NG_009215.1:g.9798C>G
NM_001202.6:c.184C>GMANE SELECT
NM_001347912.1:c.325C>G
NM_001347913.2:c.-6C>G
NM_001347914.2:c.184C>G
NM_001347915.2:c.-6C>G
NM_001347916.1:c.184C>G
NM_001347917.1:c.-6C>G
NM_130850.5:c.184C>G
NM_130851.4:c.184C>G
NP_001193.2:p.Leu62Val
NP_001334841.1:p.Leu109Val
NP_001334843.1:p.Leu62Val
NP_001334845.1:p.Leu62Val
NP_570911.2:p.Leu62Val
NP_570912.2:p.Leu62Val
NC_000014.8:g.54418757G>C
NM_001202.5:c.184C>G

Protein change:

L109V

Links:

dbSNP: rs2140238102

NCBI 1000 Genomes Browser:

rs2140238102

Molecular consequence:

NM_001347913.2:c.-6C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001347915.2:c.-6C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001347917.1:c.-6C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001202.6:c.184C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347912.1:c.325C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347914.2:c.184C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001347916.1:c.184C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130850.5:c.184C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130851.4:c.184C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Orofacial cleft 11 (OFC11)
Synonyms:: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11; Orofacial cleft 11; ofc11
Identifiers:: MONDO: MONDO:0010906; MedGen: C2677434; OMIM: 600625

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001934467	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 8, 2020)	unknown	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

SCV001934467

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 8, 2020)

unknown

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	unknown	yes	not provided	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 Leipzig Medical Center, SCV001934467.1

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

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

Last Updated: Apr 15, 2024

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