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NM_004380.3(CREBBP):c.3167A>T (p.Lys1056Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 6, 2023
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:
RCV004761113.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.3167A>T (p.Lys1056Ile)]

NM_004380.3(CREBBP):c.3167A>T (p.Lys1056Ile)

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_004380.3(CREBBP):c.3167A>T (p.Lys1056Ile)
HGVS:
  • NC_000016.10:g.3767803T>A
  • NG_009873.2:g.117911A>T
  • NM_001079846.1:c.3053A>T
  • NM_004380.3:c.3167A>TMANE SELECT
  • NP_001073315.1:p.Lys1018Ile
  • NP_004371.2:p.Lys1056Ile
  • LRG_1426t1:c.3167A>T
  • LRG_1426:g.117911A>T
  • LRG_1426p1:p.Lys1056Ile
  • NC_000016.9:g.3817804T>A
  • NM_004380.2:c.3167A>T
...more
Protein change:
K1018I
Molecular consequence:
  • NM_001079846.1:c.3053A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004380.3:c.3167A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005371167GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Jun 6, 2023)
germlineclinical testing

Citation Link

Last Updated: Oct 20, 2024

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