NM_003107.3(SOX4):c.1173_1184del (p.Gly393_Ser396del) AND Coffin-Siris syndrome 10

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 29, 2024
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:: RCV003990828.2

Allele description [Variation Report for NM_003107.3(SOX4):c.1173_1184del (p.Gly393_Ser396del)]

NM_003107.3(SOX4):c.1173_1184del (p.Gly393_Ser396del)

Gene:

SOX4:SRY-box transcription factor 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p22.3

Genomic location:

Preferred name:

NM_003107.3(SOX4):c.1173_1184del (p.Gly393_Ser396del)

HGVS:

NC_000006.12:g.21595707_21595718del
NG_029166.1:g.6967_6978del
NM_003107.3:c.1173_1184delMANE SELECT
NP_003098.1:p.Gly393_Ser396del
NC_000006.11:g.21595938_21595949del

Molecular consequence:

NM_003107.3:c.1173_1184del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Coffin-Siris syndrome 10
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES
Identifiers:: MONDO: MONDO:0032791; MedGen: C4760583; OMIM: 618506

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RING finger protein 44 isoform X1 [Homo sapiens]
RING finger protein 44 isoform X1 [Homo sapiens]
gi|2462601470|ref|XP_054208053.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004807828	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 29, 2024)	germline	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

SCV004807828

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 29, 2024)

germline

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	germline	unknown	not provided	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

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004807828.1

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

#	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: Aug 4, 2024

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