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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000571612GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Likely pathogenic
(Sep 19, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000571612.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022