NM_003107.3(SOX4):c.334G>C (p.Ala112Pro) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001261717.2

Allele description [Variation Report for NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)]

NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

Preferred name:

NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)

HGVS:

NC_000006.12:g.21594868G>C
NG_029166.1:g.6128G>C
NM_003107.3:c.334G>CMANE SELECT
NP_003098.1:p.Ala112Pro
NC_000006.11:g.21595099G>C
NM_003107.2:c.334G>C

Protein change:

A112P; ALA112PRO

Links:

OMIM: 184430.0002; dbSNP: rs1464282327

NCBI 1000 Genomes Browser:

rs1464282327

Molecular consequence:

NM_003107.3:c.334G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Intellectual disability
Synonyms:: Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:: MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

Name:: Developmental delay
Identifiers:: MedGen: C0424605

Name:: Mild facial and digital morphological abnormalities
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439026	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439026

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

de novo

research

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kühl SJ, Dean JCS, Pilz DT, Holder SE; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, McNeill A, Graziano C, Lefebvre V.

Am J Hum Genet. 2019 Feb 7;104(2):246-259. doi: 10.1016/j.ajhg.2018.12.014. Epub 2019 Jan 17. Erratum in: Am J Hum Genet. 2019 Apr 4;104(4):777. doi: 10.1016/j.ajhg.2019.01.014.

PubMed [citation]

PMID:: 30661772
PMCID:: PMC6369454

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439026.1

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

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

Last Updated: Sep 30, 2023

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