NM_006593.4(TBR1):c.1191-5C>A AND Autism, susceptibility to, 5

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 25, 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:: RCV001779357.1

Allele description [Variation Report for NM_006593.4(TBR1):c.1191-5C>A]

NM_006593.4(TBR1):c.1191-5C>A

Gene:

TBR1:T-box brain transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.2

Genomic location:

Preferred name:

NM_006593.4(TBR1):c.1191-5C>A

HGVS:

NC_000002.12:g.161423364C>A
NG_046904.1:g.12256C>A
NM_006593.4:c.1191-5C>AMANE SELECT
NC_000002.11:g.162279875C>A
NM_006593.3:c.1191-5C>A

Links:

dbSNP: rs1412546585

NCBI 1000 Genomes Browser:

rs1412546585

Molecular consequence:

NM_006593.4:c.1191-5C>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Autism, susceptibility to, 5 (IDDAS)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY; AUTISM-RELATED SPEECH DELAY; PHRASE SPEECH DELAY, AUTISM-RELATED; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011627; MedGen: C1853755; OMIM: 606053

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002014694	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 25, 2021)	unknown	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

SCV002014694

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 25, 2021)

unknown

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	unknown	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From 3billion, SCV002014694.1

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

Description

This variant is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tools predict the variant to alter splicing and produce an abnormal transcript (Splice AI: 0.94, PP3). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Dec 24, 2023

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