U.S. flag

An official website of the United States government

NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 16, 2021
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:
RCV001799564.3

Allele description [Variation Report for NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg)]

NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg)

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.5462A>G (p.Gln1821Arg)
HGVS:
  • NC_000016.10:g.3729585T>C
  • NG_009873.2:g.156129A>G
  • NM_001079846.1:c.5348A>G
  • NM_004380.3:c.5462A>GMANE SELECT
  • NP_001073315.1:p.Gln1783Arg
  • NP_004371.2:p.Gln1821Arg
  • LRG_1426t1:c.5462A>G
  • LRG_1426:g.156129A>G
  • LRG_1426p1:p.Gln1821Arg
  • NC_000016.9:g.3779586T>C
  • NG_009873.1:g.155536A>G
Protein change:
Q1783R
Links:
dbSNP: rs1448187215
NCBI 1000 Genomes Browser:
rs1448187215
Molecular consequence:
  • NM_001079846.1:c.5348A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004380.3:c.5462A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Rubinstein-Taybi syndrome due to CREBBP mutations
Synonyms:
Rubinstein syndrome; Broad thumbs and great toes, characteristic facies, and mental retardation; RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008393; MedGen: C4551859; Orphanet: 783; OMIM: 180849
Name:
Menke-Hennekam syndrome 1 (MKHK1)
Identifiers:
MONDO: MONDO:0020763; MedGen: C5193034; OMIM: 618332

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002043774Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 16, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology, SCV002043774.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.5462A>G variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is not present in Indian Exome Database and in our in-house exome database. The variant was not earlier reported to ClinVar, Human Genome Mutation Database and/or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD, Varsome etc. predicted this variant to be likely deleterious. The variant is located in a mutational hotspot and critical functional domain of the protein that interacts with another protein TRERF1 [PMID:11349124].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot provideddiscovery1not provided1not provided

Last Updated: Dec 24, 2023