NM_004380.3(CREBBP):c.5168G>T (p.Cys1723Phe) AND Menke-Hennekam syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 9, 2023
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:: RCV003333820.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.5168G>T (p.Cys1723Phe)]

NM_004380.3(CREBBP):c.5168G>T (p.Cys1723Phe)

Gene:

CREBBP:CREB binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_004380.3(CREBBP):c.5168G>T (p.Cys1723Phe)

HGVS:

NC_000016.10:g.3731196C>A
NG_009873.2:g.154518G>T
NM_001079846.1:c.5054G>T
NM_004380.3:c.5168G>TMANE SELECT
NP_001073315.1:p.Cys1685Phe
NP_004371.2:p.Cys1723Phe
LRG_1426t1:c.5168G>T
LRG_1426:g.154518G>T
LRG_1426p1:p.Cys1723Phe
NC_000016.9:g.3781197C>A

Protein change:

C1685F

Molecular consequence:

NM_001079846.1:c.5054G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004380.3:c.5168G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Menke-Hennekam syndrome 1 (MKHK1)
Identifiers:: MONDO: MONDO:0020763; MedGen: C5193034; OMIM: 618332

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004041625	Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	no assertion criteria provided	Likely pathogenic (Oct 9, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004041625

Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

no assertion criteria provided

Likely pathogenic
(Oct 9, 2023)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004041625.1

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

Last Updated: Oct 14, 2023

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