NM_004380.2(CREBBP):c.1100G>T (p.Cys367Phe) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Nov 29, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414631.1

Allele description

NM_004380.2(CREBBP):c.1100G>T (p.Cys367Phe)

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_004380.2(CREBBP):c.1100G>T (p.Cys367Phe)
HGVS:
  • NC_000016.10:g.3793502C>A
  • NG_009873.1:g.91619G>T
  • NM_004380.2:c.1100G>T
  • NP_004371.2:p.Cys367Phe
  • NC_000016.9:g.3843503C>A
Protein change:
C367F
Links:
dbSNP: rs1057518498
NCBI 1000 Genomes Browser:
rs1057518498
Molecular consequence:
  • NM_004380.2:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492195GeneDxcriteria provided, single submitter
Likely pathogenic
(Nov 29, 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, SCV000492195.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The C367F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. C367F is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs within a zinc finger region that is critical for interaction with the SRCAP region of CREBBP (Johnston et al., 1999). The C367 residue is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we consider this variant to be likely pathogenic, although the possibility it is benign cannot be excluded.

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

Last Updated: Jul 21, 2018