NM_138572.3(TAF8):c.781-1G>A AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 7, 2019
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:: RCV000791326.1

Allele description [Variation Report for NM_138572.3(TAF8):c.781-1G>A]

NM_138572.3(TAF8):c.781-1G>A

Gene:

TAF8:TATA-box binding protein associated factor 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_138572.3(TAF8):c.781-1G>A

HGVS:

NC_000006.12:g.42077099G>A
NM_001410906.1:c.781-1G>A
NM_001410907.1:c.781-1G>A
NM_138572.3:c.781-1G>AMANE SELECT
NC_000006.11:g.42044837G>A
NM_138572.2:c.781-1G>A

Nucleotide change:

IVS7AS, G-A, -1

Links:

OMIM: 609514.0001; dbSNP: rs371261267

NCBI 1000 Genomes Browser:

rs371261267

Molecular consequence:

NM_001410906.1:c.781-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001410907.1:c.781-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_138572.3:c.781-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

Condition(s)

Name:: Partial agenesis of the corpus callosum (PACC)
Synonyms:: Partial agenesis of corpus callosum; Severe intellectual retardation and intractable seizures
Identifiers:: MedGen: C0431368; Human Phenotype Ontology: HP:0001338

Name:: Microcephaly
Synonyms:: Microcephaly (disease)
Identifiers:: MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

Name:: Severe global developmental delay
Synonyms:: Severe psychomotor retardation
Identifiers:: MedGen: C1837397; Human Phenotype Ontology: HP:0011344

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000902437	Laboratoire de Genetique Biologique, CHU de Poitiers	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 7, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 29648665

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000902437

Laboratoire de Genetique Biologique, CHU de Poitiers

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 7, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
African	germline	yes	1	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

Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.

El-Saafin F, Curry C, Ye T, Garnier JM, Kolb-Cheynel I, Stierle M, Downer NL, Dixon MP, Negroni L, Berger I, Thomas T, Voss AK, Dobyns W, Devys D, Tora L.

Hum Mol Genet. 2018 Jun 15;27(12):2171-2186. doi: 10.1093/hmg/ddy126.

PubMed [citation]

PMID:: 29648665
PMCID:: PMC5985725

Details of each submission

From Laboratoire de Genetique Biologique, CHU de Poitiers, SCV000902437.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	1	not provided	not provided	clinical testing	PubMed (2)

Description

Correlation genotype/phenotype as compared with the published patient in PMID-29648665

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

Last Updated: Mar 10, 2024

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