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NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser) AND Tatton-Brown-Rahman overgrowth syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000128562.3

Allele description [Variation Report for NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser)]

NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser)

Gene:
DNMT3A:DNA methyltransferase 3 alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser)
HGVS:
  • NC_000002.12:g.25234313A>G
  • NG_029465.2:g.113278T>C
  • NM_001320893.1:c.2249T>C
  • NM_001375819.1:c.2036T>C
  • NM_022552.5:c.2705T>CMANE SELECT
  • NM_153759.3:c.2138T>C
  • NM_175629.2:c.2705T>C
  • NP_001307822.1:p.Phe750Ser
  • NP_001362748.1:p.Phe679Ser
  • NP_072046.2:p.Phe902Ser
  • NP_715640.2:p.Phe713Ser
  • NP_783328.1:p.Phe902Ser
  • LRG_459t2:c.2138T>C
  • LRG_459t4:c.2705T>C
  • LRG_459:g.113278T>C
  • LRG_459p2:p.Phe713Ser
  • LRG_459p4:p.Phe902Ser
  • NC_000002.11:g.25457182A>G
  • NR_135490.2:n.3135T>C
  • Q9Y6K1:p.Phe902Ser
Protein change:
F679S; PHE902SER
Links:
UniProtKB: Q9Y6K1#VAR_071471; OMIM: 602769.0005; dbSNP: rs587777510
NCBI 1000 Genomes Browser:
rs587777510
Molecular consequence:
  • NM_001320893.1:c.2249T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375819.1:c.2036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022552.5:c.2705T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153759.3:c.2138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175629.2:c.2705T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135490.2:n.3135T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Tatton-Brown-Rahman overgrowth syndrome
Synonyms:
Tatton-Brown-rahman syndrome; Tall stature-intellectual disability-facial dysmorphism syndrome
Identifiers:
MONDO: MONDO:0014382; MedGen: C4014545; Orphanet: 404443; OMIM: 615879

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172210OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N; Childhood Overgrowth Consortium., et al.

Nat Genet. 2014 Apr;46(4):385-8. doi: 10.1038/ng.2917. Epub 2014 Mar 9. Erratum in: Nat Genet. 2014 Jun;46(6):657.

PubMed [citation]
PMID:
24614070
PMCID:
PMC3981653

Details of each submission

From OMIM, SCV000172210.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 9.8-year-old patient with Tatton-Brown-Rahman syndrome (TBRS; 615879), Tatton-Brown et al. (2014) identified a de novo heterozygous c.2705T-C transition in the DNMT3A gene, resulting in a phe902-to-ser (F902S) substitution in the methyltransferase domain. In vitro functional studies of the variant were not performed.

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

Last Updated: Jun 17, 2023