NM_004380.3(CREBBP):c.5570A>C (p.His1857Pro) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 19, 2016
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:: RCV000487189.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.5570A>C (p.His1857Pro)]

NM_004380.3(CREBBP):c.5570A>C (p.His1857Pro)

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.5570A>C (p.His1857Pro)

HGVS:

NC_000016.10:g.3729477T>G
NG_009873.1:g.155644A>C
NG_009873.2:g.156237A>C
NM_001079846.1:c.5456A>C
NM_004380.3:c.5570A>CMANE SELECT
NP_001073315.1:p.His1819Pro
NP_004371.2:p.His1857Pro
NP_004371.2:p.His1857Pro
LRG_1426t1:c.5570A>C
LRG_1426:g.156237A>C
LRG_1426p1:p.His1857Pro
NC_000016.9:g.3779478T>G
NM_004380.2:c.5570A>C

Protein change:

H1819P

Links:

dbSNP: rs1064795628

NCBI 1000 Genomes Browser:

rs1064795628

Molecular consequence:

NM_001079846.1:c.5456A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004380.3:c.5570A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571612	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Sep 19, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571612

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Sep 19, 2016)

germline

clinical testing

Citation Link

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 GeneDx, SCV000571612.4

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

Description

The H1857P variant in the CREBBP gene has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. The H1857P variant was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The H1857P variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is conserved across species. In silico analysis predicts this variant is probably damaging tothe protein structure/function. We interpret H1857P as a likely pathogenic variant

#	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: Apr 23, 2022

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