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NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter) AND Waardenburg syndrome type 4C

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 1998
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:
RCV000007818.11

Allele description [Variation Report for NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter)]

NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter)

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.249C>G (p.Tyr83Ter)
HGVS:
  • NC_000022.11:g.37983536G>C
  • NG_007948.1:g.5997C>G
  • NG_148296.1:g.813G>C
  • NM_001301130.2:c.294-2618G>C
  • NM_001301131.2:c.293+16366G>C
  • NM_001363825.1:c.*38+11226G>C
  • NM_006941.4:c.249C>GMANE SELECT
  • NP_008872.1:p.Tyr83Ter
  • NP_008872.1:p.Tyr83Ter
  • LRG_271t1:c.249C>G
  • LRG_271:g.5997C>G
  • LRG_271p1:p.Tyr83Ter
  • NC_000022.10:g.38379543G>C
  • NM_006941.3:c.249C>G
Protein change:
Y83*; TYR83TER
Links:
OMIM: 602229.0002; dbSNP: rs73415876
NCBI 1000 Genomes Browser:
rs73415876
Molecular consequence:
  • NM_001301130.2:c.294-2618G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+16366G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+11226G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006941.4:c.249C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Waardenburg syndrome type 4C (WS4C)
Synonyms:
WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C
Identifiers:
MONDO: MONDO:0013202; MedGen: C2750452; Orphanet: 897; OMIM: 613266

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028023OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 1998) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M.

Nat Genet. 1998 Feb;18(2):171-3.

PubMed [citation]
PMID:
9462749

Details of each submission

From OMIM, SCV000028023.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a boy with WS4C (613266) characterized by bilateral profound hearing loss (treated by a cochlear implant), fair hair and vivid blue eyes, and chronic bowel problems, Pingault et al. (1998) identified a heterozygous de novo nonsense tyr83-to-ter mutation (Y83X) in the SOX10 gene. Rectal biopsy showed that the number of ganglia was dramatically reduced. The de novo mutation was located upstream of the HMG domain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024