NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg) AND Menke-Hennekam syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 2024
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:: RCV004022526.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg)]

NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg)

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.5323T>C (p.Cys1775Arg)

HGVS:

NC_000016.10:g.3729724A>G
NG_009873.2:g.155990T>C
NM_001079846.1:c.5209T>C
NM_004380.3:c.5323T>CMANE SELECT
NP_001073315.1:p.Cys1737Arg
NP_004371.2:p.Cys1775Arg
NP_004371.2:p.Cys1775Arg
LRG_1426t1:c.5323T>C
LRG_1426:g.155990T>C
LRG_1426p1:p.Cys1775Arg
NC_000016.9:g.3779725A>G
NG_009873.1:g.155397T>C
NM_004380.2:c.5323T>C

Protein change:

C1737R

Links:

dbSNP: rs1057524802

NCBI 1000 Genomes Browser:

rs1057524802

Molecular consequence:

NM_001079846.1:c.5209T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004380.3:c.5323T>C - 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
SCV005013303	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (Strehlow et al. (Brain. 2019))	Uncertain significance (Feb 28, 2024)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005013303

Clinical Genetics and Genomics, Karolinska University Hospital

criteria provided, single submitter

(Strehlow et al. (Brain. 2019))

Uncertain significance
(Feb 28, 2024)

de novo

clinical testing

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; et al.

Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304.

PubMed [citation]

PMID:: 30544257
PMCID:: PMC6308310

Details of each submission

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV005013303.1

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

#	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: May 12, 2024

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