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NM_004380.3(CREBBP):c.6869C>T (p.Ala2290Val) AND CREBBP-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 31, 2024
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004744971.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.6869C>T (p.Ala2290Val)]

NM_004380.3(CREBBP):c.6869C>T (p.Ala2290Val)

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.6869C>T (p.Ala2290Val)
HGVS:
  • NC_000016.10:g.3728178G>A
  • NG_009873.2:g.157536C>T
  • NM_001079846.1:c.6755C>T
  • NM_004380.3:c.6869C>TMANE SELECT
  • NP_001073315.1:p.Ala2252Val
  • NP_004371.2:p.Ala2290Val
  • LRG_1426t1:c.6869C>T
  • LRG_1426:g.157536C>T
  • LRG_1426p1:p.Ala2290Val
  • NC_000016.9:g.3778179G>A
  • NM_004380.2:c.6869C>T
...more
Protein change:
A2252V
Molecular consequence:
  • NM_001079846.1:c.6755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004380.3:c.6869C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CREBBP-related disorder
Synonyms:
CREBBP-related condition; CREBBP-Related Disorders
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005362859PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 31, 2024)
germlineclinical testing

Last Updated: Oct 13, 2024

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