NM_004606.5(TAF1):c.2182dup (p.Thr728fs) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 10, 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:: RCV002692531.2

Allele description [Variation Report for NM_004606.5(TAF1):c.2182dup (p.Thr728fs)]

NM_004606.5(TAF1):c.2182dup (p.Thr728fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_004606.5(TAF1):c.2182dup (p.Thr728fs)

HGVS:

NC_000023.11:g.71385005dup
NG_012771.2:g.23742dup
NM_001286074.2:c.2182dup
NM_004606.5:c.2182dupMANE SELECT
NM_138923.4:c.2119dup
NP_001273003.2:p.Thr728fs
NP_004597.3:p.Thr728fs
NP_620278.2:p.Thr707fs
NC_000023.10:g.70604855dup
NM_004606.3:c.2242dupA
NR_104387.2:n.2200dup
NR_104388.2:n.2200dup
NR_104389.2:n.2200dup
NR_104390.2:n.2200dup
NR_104391.2:n.2200dup
NR_104392.2:n.2200dup
NR_104393.2:n.2200dup
NR_104394.2:n.2200dup
NR_104395.2:n.2200dup

Protein change:

T707fs

Molecular consequence:

NM_001286074.2:c.2182dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004606.5:c.2182dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138923.4:c.2119dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_104387.2:n.2200dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104388.2:n.2200dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104389.2:n.2200dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104390.2:n.2200dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104391.2:n.2200dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104392.2:n.2200dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104393.2:n.2200dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104394.2:n.2200dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104395.2:n.2200dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003552606	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (Feb 10, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003552606

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(Feb 10, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003552606.2

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

Description

The c.2242dupA (p.T748Nfs*18) alteration, located in exon 14 (coding exon 14) of the TAF1 gene, consists of a duplication of A at position 2242, causing a translational frameshift with a predicted alternate stop codon after 18 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD), the TAF1 c.2242dupA alteration was not observed, with coverage at this position. Based on the available evidence, this alteration is classified as likely pathogenic.

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

Last Updated: May 1, 2024

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