NM_181486.4(TBX5):c.510+5G>C AND Holt-Oram syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 14, 2018
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:: RCV000782336.2

Allele description [Variation Report for NM_181486.4(TBX5):c.510+5G>C]

NM_181486.4(TBX5):c.510+5G>C

Gene:

TBX5:T-box transcription factor 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.21

Genomic location:

Preferred name:

NM_181486.4(TBX5):c.510+5G>C

HGVS:

NC_000012.12:g.114398568C>G
NG_007373.1:g.14875G>C
NM_000192.3:c.510+5G>C
NM_080717.4:c.360+5G>C
NM_181486.4:c.510+5G>CMANE SELECT
LRG_670t1:c.510+5G>C
LRG_670:g.14875G>C
NC_000012.11:g.114836373C>G

Links:

dbSNP: rs1555226301

NCBI 1000 Genomes Browser:

rs1555226301

Molecular consequence:

NM_000192.3:c.510+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_080717.4:c.360+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_181486.4:c.510+5G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Holt-Oram syndrome (HOS)
Synonyms:: Ventriculo-radial syndrome; Atrio digital syndrome; Cardiac-limb syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007732; MedGen: C0265264; Orphanet: 392; OMIM: 142900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000920857	Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	no assertion criteria provided	Likely pathogenic (Jun 14, 2018)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000920857

Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

no assertion criteria provided

Likely pathogenic
(Jun 14, 2018)

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV000920857.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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