NM_003108.4(SOX11):c.191G>A (p.Arg64His) AND Craniosynostosis syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 23, 2019
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:: RCV001849680.1

Allele description [Variation Report for NM_003108.4(SOX11):c.191G>A (p.Arg64His)]

NM_003108.4(SOX11):c.191G>A (p.Arg64His)

Gene:

SOX11:SRY-box transcription factor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.2

Genomic location:

Preferred name:

NM_003108.4(SOX11):c.191G>A (p.Arg64His)

HGVS:

NC_000002.12:g.5692912G>A
NG_050751.1:g.5246G>A
NM_003108.4:c.191G>AMANE SELECT
NP_003099.1:p.Arg64His
NC_000002.11:g.5833044G>A
NM_003108.3:c.191G>A

Protein change:

R64H

Links:

dbSNP: rs2103276364

NCBI 1000 Genomes Browser:

rs2103276364

Molecular consequence:

NM_003108.4:c.191G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Craniosynostosis syndrome
Synonyms:: Craniosynostosis
Identifiers:: MONDO: MONDO:0015469; MeSH: D003398; MedGen: C0010278; OMIM: PS123100; Human Phenotype Ontology: HP:0001363

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Lrrc59 leucine rich repeat containing 59 [Mus musculus]
Lrrc59 leucine rich repeat containing 59 [Mus musculus]
Gene ID:98238

Gene
98238[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002106645	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Likely pathogenic (Jul 23, 2019)	de novo	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106645

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Likely pathogenic
(Jul 23, 2019)

de novo

literature only

PubMed (1)
[See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.

Timberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A; Yale Center for Genome Analysis., Steinbacher DM, Larysz D, Staffenberg DA, Flores RL, Rodriguez ED, Boggon TJ, Persing JA, Lifton RP.

Proc Natl Acad Sci U S A. 2019 Jul 23;116(30):15116-15121. doi: 10.1073/pnas.1902041116. Epub 2019 Jul 10. Erratum in: Proc Natl Acad Sci U S A. 2019 Aug 20;116(34):17130. doi: 10.1073/pnas.1912893116.

PubMed [citation]

PMID:: 31292255
PMCID:: PMC6660739

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106645.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	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		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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