NM_018368.4(LMBRD1):c.981-10dup AND Donnai-Barrow syndrome

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:: RCV000490505.9

Allele description [Variation Report for NM_018368.4(LMBRD1):c.981-10dup]

NM_018368.4(LMBRD1):c.981-10dup

Gene:

LMBRD1:LMBR1 domain containing 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6q13

Genomic location:

Preferred name:

NM_018368.4(LMBRD1):c.981-10dup

HGVS:

NC_000006.12:g.69701555dup
NG_016012.2:g.170069dup
NM_001363722.2:c.762-10dup
NM_001367271.1:c.762-10dup
NM_001367272.1:c.762-10dup
NM_018368.4:c.981-10dupMANE SELECT
LRG_1310t1:c.981-10dup
LRG_1310:g.170069dup
NC_000006.11:g.70411439_70411440insA
NC_000006.11:g.70411447dup
NG_016012.1:g.100610dup
NM_018368.3:c.981-3dup
NM_018368.3:c.981-3dupT

Links:

dbSNP: rs202207965

NCBI 1000 Genomes Browser:

rs202207965

Molecular consequence:

NM_001363722.2:c.762-10dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001367271.1:c.762-10dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001367272.1:c.762-10dup - intron variant - [Sequence Ontology: SO:0001627]
NM_018368.4:c.981-10dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Donnai-Barrow syndrome
Synonyms:: DBS/FOAR SYNDROME; FACIOOCULOACOUSTICORENAL SYNDROME
Identifiers:: MONDO: MONDO:0009104; MedGen: C1857277; Orphanet: 2143; OMIM: 222448

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267386	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 19136951, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267386

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
East Asian	germline	unknown	2	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, Nürnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Höhne W, Gasnier B, Rosenblatt DS, Fowler B, Nürnberg P.

Nat Genet. 2009 Feb;41(2):234-9. doi: 10.1038/ng.294. Epub 2009 Jan 11.

PubMed [citation]

PMID:: 19136951

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267386.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	2	not provided	not provided	reference population	PubMed (2)

#	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		2	not provided	not provided	not provided

Last Updated: May 16, 2025

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