NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001290321.1

Allele description [Variation Report for NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val)]

NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val)

Gene:

COPB1:COPI coat complex subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.2

Genomic location:

Preferred name:

NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val)

HGVS:

NC_000011.10:g.14474581A>C
NM_001144061.2:c.1651T>GMANE SELECT
NM_001144062.2:c.1651T>G
NM_016451.5:c.1651T>G
NP_001137533.1:p.Phe551Val
NP_001137534.1:p.Phe551Val
NP_057535.1:p.Phe551Val
NC_000011.9:g.14496127A>C
NM_016451.4:c.1651T>G
p.Phe551Val

Protein change:

F551V; PHE551VAL

Links:

OMIM: 600959.0002; dbSNP: rs1850476947

NCBI 1000 Genomes Browser:

rs1850476947

Molecular consequence:

NM_001144061.2:c.1651T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001144062.2:c.1651T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016451.5:c.1651T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cataract
Synonyms:: Cataract (disease)
Identifiers:: MONDO: MONDO:0005129; MeSH: D002386; MedGen: C0086543; OMIM: PS116200; Human Phenotype Ontology: HP:0000518

Name:: Immunodeficiency
Identifiers:: MONDO: MONDO:0021094; MedGen: C0021051; OMIM: PS300755; Human Phenotype Ontology: HP:0002721

Name:: Microcephaly
Synonyms:: Microcephaly (disease)
Identifiers:: MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

Name:: Intellectual disability, severe
Identifiers:: MedGen: C0036857; Human Phenotype Ontology: HP:0010864

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001478272	UCL Queen Square Institute of Neurology, University College London	no assertion criteria provided	Likely pathogenic	germline, not applicable	clinical testing, in vitro

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001478272

UCL Queen Square Institute of Neurology, University College London

no assertion criteria provided

Likely pathogenic

germline, not applicable

clinical testing, in vitro

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From UCL Queen Square Institute of Neurology, University College London, SCV001478272.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided
2	not provided	not provided	not provided	not provided	in vitro	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
2	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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