NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp) AND Intellectual disability, X-linked, syndromic 33

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 23, 2019
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:: RCV001027754.2

Allele description [Variation Report for NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp)]

NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp)

Gene:

TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp)

HGVS:

NC_000023.11:g.71398651C>T
NG_012771.2:g.37388C>T
NM_001286074.2:c.3700C>T
NM_004606.5:c.3700C>TMANE SELECT
NM_138923.4:c.3637C>T
NP_001273003.2:p.Arg1234Trp
NP_004597.2:p.Arg1254Trp
NP_004597.3:p.Arg1234Trp
NP_620278.2:p.Arg1213Trp
NC_000023.10:g.70618501C>T
NM_004606.4:c.3760C>T
NR_104387.2:n.3718C>T
NR_104388.2:n.3718C>T
NR_104389.2:n.3718C>T
NR_104390.2:n.3718C>T
NR_104391.2:n.3718C>T
NR_104392.2:n.3718C>T
NR_104393.2:n.3718C>T
NR_104394.2:n.3718C>T
NR_104395.2:n.3718C>T

Protein change:

R1213W

Links:

dbSNP: rs1602538353

NCBI 1000 Genomes Browser:

rs1602538353

Molecular consequence:

NM_001286074.2:c.3700C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004606.5:c.3700C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_138923.4:c.3637C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_104387.2:n.3718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104388.2:n.3718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104389.2:n.3718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104390.2:n.3718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104391.2:n.3718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104392.2:n.3718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104393.2:n.3718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104394.2:n.3718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104395.2:n.3718C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Intellectual disability, X-linked, syndromic 33 (MRXS33)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33
Identifiers:: MONDO: MONDO:0010500; MedGen: C4225418; OMIM: 300966

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000998772	Genome Medicine, Institute for Basic Research in Developmental Disabilities	no assertion criteria provided	Likely pathogenic (Sep 23, 2019)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000998772

Genome Medicine, Institute for Basic Research in Developmental Disabilities

no assertion criteria provided

Likely pathogenic
(Sep 23, 2019)

de novo

clinical testing

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

Details of each submission

From Genome Medicine, Institute for Basic Research in Developmental Disabilities, SCV000998772.1

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

#	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 5, 2023

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