NM_006941.4(SOX10):c.404G>C (p.Ser135Thr) AND Waardenburg syndrome type 2E, without neurologic involvement

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 1999
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:: RCV000007821.3

Allele description

NM_006941.4(SOX10):c.404G>C (p.Ser135Thr)

Genes:

POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_006941.4(SOX10):c.404G>C (p.Ser135Thr)

HGVS:

NC_000022.11:g.37983381C>G
NG_007948.1:g.6152G>C
NM_001301130.2:c.294-2773C>G
NM_001301131.2:c.293+16211C>G
NM_001363825.1:c.*38+11071C>G
NM_006941.4:c.404G>CMANE SELECT
NP_008872.1:p.Ser135Thr
LRG_271:g.6152G>C
P56693:p.Ser135Thr

Protein change:

S135T; SER135THR

Links:

UniProtKB: P56693#VAR_021386; OMIM: 602229.0005; dbSNP: rs74315515

NCBI 1000 Genomes Browser:

rs74315515

Molecular consequence:

NM_001301130.2:c.294-2773C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001301131.2:c.293+16211C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001363825.1:c.*38+11071C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_006941.4:c.404G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Waardenburg syndrome type 2E, without neurologic involvement
Identifiers:: MedGen: CN069052

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028026	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 1999)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8911608, 10441344

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028026

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 1999)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome.

Hennekam RC, Gorlin RJ.

Am J Med Genet. 1996 Oct 16;65(2):146-8. Review.

PubMed [citation]

PMID:: 8911608

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M.

Hum Mol Genet. 1999 Sep;8(9):1785-9.

PubMed [citation]

PMID:: 10441344

Details of each submission

From OMIM, SCV000028026.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a girl with a mild form of Waardenburg syndrome type 2E (611584), reported by Hennekam and Gorlin (1996), Bondurand et al. (1999) identified a heterozygous ser135-to-thr (S135T) mutation in the SOX10 gene. She had cutaneous hypo- and hyperpigmented regions and hearing loss.

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

Last Updated: May 21, 2022

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