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NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 20, 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:
RCV002313775.9

Allele description [Variation Report for NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=)]

NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=)

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.5436C>G (p.Thr1812=)
HGVS:
  • NC_000016.10:g.3729611G>C
  • NG_009873.2:g.156103C>G
  • NM_001079846.1:c.5322C>G
  • NM_004380.3:c.5436C>GMANE SELECT
  • NP_001073315.1:p.Thr1774=
  • NP_004371.2:p.Thr1812=
  • NP_004371.2:p.Thr1812=
  • LRG_1426t1:c.5436C>G
  • LRG_1426:g.156103C>G
  • LRG_1426p1:p.Thr1812=
  • NC_000016.9:g.3779612G>C
  • NG_009873.1:g.155510C>G
  • NM_004380.2:c.5436C>G
  • NP_004371.2:p.(=)
Links:
dbSNP: rs61731405
NCBI 1000 Genomes Browser:
rs61731405
Molecular consequence:
  • NM_001079846.1:c.5322C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004380.3:c.5436C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000847837Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 20, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000847837.5

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024