NM_006940.6(SOX5):c.1678A>G (p.Met560Val) AND Neurodevelopmental delay

Germline classification:: Pathogenic (1 submission)
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:: RCV002274106.3

Allele description [Variation Report for NM_006940.6(SOX5):c.1678A>G (p.Met560Val)]

NM_006940.6(SOX5):c.1678A>G (p.Met560Val)

Gene:

SOX5:SRY-box transcription factor 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_006940.6(SOX5):c.1678A>G (p.Met560Val)

HGVS:

NC_000012.12:g.23543304T>C
NG_029612.2:g.1024143A>G
NM_001261414.3:c.1315A>G
NM_001261415.3:c.1648A>G
NM_001330785.2:c.1573A>G
NM_006940.6:c.1678A>GMANE SELECT
NM_152989.5:c.1639A>G
NM_178010.4:c.520A>G
NP_001248343.1:p.Met439Val
NP_001248344.1:p.Met550Val
NP_001317714.1:p.Met525Val
NP_008871.3:p.Met560Val
NP_694534.1:p.Met547Val
NP_821078.1:p.Met174Val
NC_000012.11:g.23696238T>C
NM_006940.4:c.1678A>G
NM_006940.5:c.1678A>G

Protein change:

M174V

Links:

dbSNP: rs1591908609

NCBI 1000 Genomes Browser:

rs1591908609

Molecular consequence:

NM_001261414.3:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001261415.3:c.1648A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330785.2:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006940.6:c.1678A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_152989.5:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_178010.4:c.520A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurodevelopmental delay
Identifiers:: MedGen: C4022738; Human Phenotype Ontology: HP:0012758

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002559038	Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	de novo	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

SCV002559038

Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

de novo

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	de novo	yes	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 Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV002559038.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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