NM_006941.4(SOX10):c.521A>C (p.Gln174Pro) AND Waardenburg syndrome type 2E, with neurologic involvement

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2009
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:: RCV000007835.13

Allele description [Variation Report for NM_006941.4(SOX10):c.521A>C (p.Gln174Pro)]

NM_006941.4(SOX10):c.521A>C (p.Gln174Pro)

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.521A>C (p.Gln174Pro)

HGVS:

NC_000022.11:g.37978043T>G
NG_007948.1:g.11490A>C
NM_001301130.2:c.294-8111T>G
NM_001301131.2:c.293+10873T>G
NM_001363825.1:c.*38+5733T>G
NM_006941.4:c.521A>CMANE SELECT
NP_008872.1:p.Gln174Pro
NP_008872.1:p.Gln174Pro
LRG_271t1:c.521A>C
LRG_271:g.11490A>C
LRG_271p1:p.Gln174Pro
NC_000022.10:g.38374050T>G
NM_006941.3:c.521A>C
P56693:p.Gln174Pro

Protein change:

Q174P; GLN174PRO

Links:

UniProtKB: P56693#VAR_066754; OMIM: 602229.0018; dbSNP: rs267607081

NCBI 1000 Genomes Browser:

rs267607081

Molecular consequence:

NM_001301130.2:c.294-8111T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001301131.2:c.293+10873T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001363825.1:c.*38+5733T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_006941.4:c.521A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Waardenburg syndrome type 2E, with neurologic involvement
Identifiers:: MedGen: CN069053

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028040	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2009)	germline	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

SCV000028040

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2009)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.

Barnett CP, Mendoza-Londono R, Blaser S, Gillis J, Dupuis L, Levin AV, Chiang PW, Spector E, Reardon W.

Am J Med Genet A. 2009 Mar;149A(3):431-6. doi: 10.1002/ajmg.a.32657.

PubMed [citation]

PMID:: 19208381

Details of each submission

From OMIM, SCV000028040.3

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

Description

In a 21-month-old boy with Waardenburg syndrome type 2E (611584), Barnett et al. (2009) identified a heterozygous 521A-C transversion in exon 4 of the SOX10 gene, resulting in a gln174-to-pro (Q174P) substitution in the highly conserved HMG domain. He had sensorineural deafness, fair skin and hair pigmentation, multiple tiny lentigines, cafe-au-lait spots, and light blue irides, but no evidence of Hirschsprung disease. He also showed neurologic involvement, with hypotonia, poor vision with intermittent nystagmus in early life, inability to fix or follow, and increased muscle tone. Brain imaging showed absence of the cochlear nerves, absence of the olfactory bulbs, and brain hypomyelination.

#	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: Oct 13, 2024

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