NM_001348323.3(TRIP12):c.3551del (p.Asn1184fs) AND Clark-Baraitser syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 12, 2024
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:: RCV004596020.1

Allele description [Variation Report for NM_001348323.3(TRIP12):c.3551del (p.Asn1184fs)]

NM_001348323.3(TRIP12):c.3551del (p.Asn1184fs)

Gene:

TRIP12:thyroid hormone receptor interactor 12 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_001348323.3(TRIP12):c.3551del (p.Asn1184fs)

HGVS:

NC_000002.12:g.229797764del
NG_053017.1:g.130472del
NM_001284214.2:c.3470del
NM_001284215.2:c.3425del
NM_001284216.2:c.2516del
NM_001348315.2:c.3470del
NM_001348316.2:c.3425del
NM_001348317.1:c.3425del
NM_001348318.2:c.3425del
NM_001348319.1:c.3551del
NM_001348320.2:c.3551del
NM_001348321.1:c.3554del
NM_001348322.1:c.3551del
NM_001348323.3:c.3551delMANE SELECT
NM_001348324.2:c.3551del
NM_001348325.2:c.3551del
NM_001348326.2:c.3551del
NM_001348327.2:c.3551del
NM_001348328.1:c.3554del
NM_001348329.2:c.3554del
NM_001348330.2:c.3554del
NM_001348331.1:c.3344del
NM_001348332.1:c.3464del
NM_001348333.1:c.3473del
NM_004238.3:c.3326del
NP_001271143.1:p.Asn1157fs
NP_001271144.1:p.Asn1142fs
NP_001271145.1:p.Asn839fs
NP_001335244.1:p.Asn1157fs
NP_001335245.1:p.Asn1142fs
NP_001335246.1:p.Asn1142fs
NP_001335247.1:p.Asn1142fs
NP_001335248.1:p.Asn1184fs
NP_001335249.1:p.Asn1184fs
NP_001335250.1:p.Asn1185fs
NP_001335251.1:p.Asn1184fs
NP_001335252.1:p.Asn1184fs
NP_001335253.1:p.Asn1184fs
NP_001335254.1:p.Asn1184fs
NP_001335255.1:p.Asn1184fs
NP_001335256.1:p.Asn1184fs
NP_001335257.1:p.Asn1185fs
NP_001335258.1:p.Asn1185fs
NP_001335259.1:p.Asn1185fs
NP_001335260.1:p.Asn1115fs
NP_001335261.1:p.Asn1155fs
NP_001335262.1:p.Asn1158fs
NP_004229.1:p.Asn1109fs
NC_000002.11:g.230662480del

Protein change:

N1109fs

Molecular consequence:

NM_001284214.2:c.3470del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001284215.2:c.3425del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001284216.2:c.2516del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348315.2:c.3470del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348316.2:c.3425del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348317.1:c.3425del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348318.2:c.3425del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348319.1:c.3551del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348320.2:c.3551del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348321.1:c.3554del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348322.1:c.3551del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348323.3:c.3551del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348324.2:c.3551del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348325.2:c.3551del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348326.2:c.3551del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348327.2:c.3551del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348328.1:c.3554del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348329.2:c.3554del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348330.2:c.3554del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348331.1:c.3344del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348332.1:c.3464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348333.1:c.3473del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004238.3:c.3326del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005090996	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 12, 2024)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005090996

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 12, 2024)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV005090996.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

PVS1, PS2, PM2 -The variant is expected to result in an absent or disrupted protein product. Not observed in large population cohorts (gnomAD). The variant was detected de novo (paternity confirmed).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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