NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) AND Cornelia de Lange syndrome 1

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:: RCV000119818.1

Allele description [Variation Report for NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg)]

NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg)

Gene:

NIPBL:NIPBL cohesin loading factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg)

HGVS:

NC_000005.10:g.37022100T>G
NG_006987.1:g.150218T>G
NG_006987.2:g.150218T>G
NM_015384.5:c.5378T>G
NM_133433.4:c.5378T>GMANE SELECT
NP_056199.2:p.Met1793Arg
NP_597677.2:p.Met1793Arg
NC_000005.9:g.37022202T>G
NM_133433.2:c.5378T>G

Protein change:

M1793R

Links:

dbSNP: rs483353060

NCBI 1000 Genomes Browser:

rs483353060

Molecular consequence:

NM_015384.5:c.5378T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133433.4:c.5378T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cornelia de Lange syndrome 1 (CDLS1)
Synonyms:: Typus degenerativus amstelodamensis; Brachmann de Lange syndrome
Identifiers:: MONDO: MONDO:0007387; MedGen: C4551851; Orphanet: 199; OMIM: 122470

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154744	Molecular Genetics Laboratory; Baylor College of Medicine	criteria provided, single submitter (Submitter's publication)	unknown	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000154744

Molecular Genetics Laboratory; Baylor College of Medicine

criteria provided, single submitter

(Submitter's publication)

unknown

not provided

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	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

Tang HY, Fang P, Lin JW, Darilek S, Osborne BT, Haymond JA, Manolidis S, Roa BB, Oghalai JS, Alford RL.

BMJ Open. 2015 May 19;5(5):e007506. doi: 10.1136/bmjopen-2014-007506.

PubMed [citation]

PMID:: 25991456
PMCID:: PMC4442153

Details of each submission

From Molecular Genetics Laboratory; Baylor College of Medicine, SCV000154744.2

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

Description

Converted during submission to Uncertain significance.

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

Last Updated: Apr 23, 2022

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