NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly) AND Syndrome with microcephaly as major feature

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 20, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001254640.1

Allele description [Variation Report for NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly)]

NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly)

Gene:

LMNB1:lamin B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.2

Genomic location:

Preferred name:

NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly)

HGVS:

NC_000005.10:g.126804871C>G
NG_008360.2:g.32731C>G
NM_001198557.2:c.-176C>G
NM_005573.4:c.455C>GMANE SELECT
NP_005564.1:p.Ala152Gly
NC_000005.9:g.126140563C>G
NM_005573.3:c.455C>G
NR_134488.1:n.1341C>G

Protein change:

A152G; ALA152GLY

Links:

OMIM: 150340.0002; dbSNP: rs935132421

NCBI 1000 Genomes Browser:

rs935132421

Molecular consequence:

NM_001198557.2:c.-176C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_005573.4:c.455C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_134488.1:n.1341C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Syndrome with microcephaly as major feature
Identifiers:: MedGen: C5680774

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001296959	Center for Human Genetics, University of Leuven	no assertion criteria provided	Pathogenic (Feb 20, 2020)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001296959

Center for Human Genetics, University of Leuven

no assertion criteria provided

Pathogenic
(Feb 20, 2020)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center for Human Genetics, University of Leuven, SCV001296959.1

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

Description

We performed segregation analysis, Western blot, and several functional in vitro studies that support a clear pathogenic effect

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

Last Updated: Dec 24, 2023

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