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NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs) AND Clark-Baraitser syndrome

Germline classification:
Pathogenic (2 submissions)
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:
RCV000515143.4

Allele description [Variation Report for NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs)]

NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs)

Gene:
TRIP12:thyroid hormone receptor interactor 12 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs)
HGVS:
  • NC_000002.12:g.229859212CT[2]
  • NG_053017.1:g.69018AG[2]
  • NM_001284214.2:c.586_587del
  • NM_001284215.2:c.460_461del
  • NM_001284216.2:c.98+20765AG[2]
  • NM_001348315.2:c.586_587del
  • NM_001348316.2:c.460_461del
  • NM_001348317.1:c.460_461del
  • NM_001348318.2:c.460_461del
  • NM_001348319.1:c.586_587del
  • NM_001348320.2:c.586_587del
  • NM_001348321.1:c.586_587del
  • NM_001348322.1:c.586_587del
  • NM_001348323.3:c.586_587delMANE SELECT
  • NM_001348324.2:c.586_587del
  • NM_001348325.2:c.586_587del
  • NM_001348326.2:c.586_587del
  • NM_001348327.2:c.586_587del
  • NM_001348328.1:c.586_587del
  • NM_001348329.2:c.586_587del
  • NM_001348330.2:c.586_587del
  • NM_001348331.1:c.460_461del
  • NM_001348332.1:c.586_587del
  • NM_001348333.1:c.586_587del
  • NM_001348334.1:c.586_587del
  • NM_001348335.2:c.586_587del
  • NM_001348336.1:c.586_587del
  • NM_004238.3:c.460_461del
  • NP_001271143.1:p.Ser196fs
  • NP_001271144.1:p.Ser154fs
  • NP_001335244.1:p.Ser196fs
  • NP_001335245.1:p.Ser154fs
  • NP_001335246.1:p.Ser154fs
  • NP_001335247.1:p.Ser154fs
  • NP_001335248.1:p.Ser196fs
  • NP_001335249.1:p.Ser196fs
  • NP_001335250.1:p.Ser196fs
  • NP_001335251.1:p.Ser196fs
  • NP_001335252.1:p.Ser196fs
  • NP_001335253.1:p.Ser196fs
  • NP_001335254.1:p.Ser196fs
  • NP_001335255.1:p.Ser196fs
  • NP_001335256.1:p.Ser196fs
  • NP_001335257.1:p.Ser196fs
  • NP_001335258.1:p.Ser196fs
  • NP_001335259.1:p.Ser196fs
  • NP_001335260.1:p.Ser154fs
  • NP_001335261.1:p.Ser196fs
  • NP_001335262.1:p.Ser196fs
  • NP_001335263.1:p.Ser196fs
  • NP_001335264.1:p.Ser196fs
  • NP_001335265.1:p.Ser196fs
  • NP_004229.1:p.Ser154fs
  • NC_000002.11:g.230723928CT[2]
  • NM_001284215.1:c.460_461delAG
Protein change:
S154fs
Links:
OMIM: 604506.0001; dbSNP: rs1553704327
NCBI 1000 Genomes Browser:
rs1553704327
Molecular consequence:
  • NM_001284214.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001284215.2:c.460_461del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348315.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348316.2:c.460_461del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348317.1:c.460_461del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348318.2:c.460_461del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348319.1:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348320.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348321.1:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348322.1:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348323.3:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348324.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348325.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348326.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348327.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348328.1:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348329.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348330.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348331.1:c.460_461del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348332.1:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348333.1:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348334.1:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348335.2:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348336.1:c.586_587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004238.3:c.460_461del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001284216.2:c.98+20765AG[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Clark-Baraitser syndrome
Synonyms:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; BARAITSER SYNDROME; Mental retardation, tall stature, obesity, macrocephaly and typical facial features; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0030914; MedGen: C2931130; OMIM: 617752

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000611106OMIM
no assertion criteria provided
Pathogenic
(Apr 15, 2020)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV005416278Juno Genomics, Hangzhou Juno Genomics, Inc
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Bramswig NC, Lüdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, et al.

Hum Genet. 2017 Feb;136(2):179-192. doi: 10.1007/s00439-016-1743-x. Epub 2016 Nov 15.

PubMed [citation]
PMID:
27848077

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C.

Nat Neurosci. 2016 Sep;19(9):1194-6. doi: 10.1038/nn.4352. Epub 2016 Aug 1. Review.

PubMed [citation]
PMID:
27479843
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000611106.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a 14.5-year-old girl (patient 4) of Moroccan descent with Clark-Baraitser syndrome (CLABARS; 617752), Bramswig et al. (2017) identified a de novo heterozygous 2-bp deletion (c.460_461delAG, NM_001284215.1) in the TRIP12 gene, resulting in a frameshift and premature termination (Ser154PhefsTer10). The patient had previously been reported by Lelieveld et al. (2016). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. The mutation was predicted to result in haploinsufficiency; functional studies of the variant and studies of patient cells were not performed.

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

From Juno Genomics, Hangzhou Juno Genomics, Inc, SCV005416278.1

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

Description

PVS1+PM2_Supporting+PS4_Supporting+PM6_Supporting

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

Last Updated: Dec 7, 2024