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NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) AND Waardenburg syndrome type 2E, with neurologic involvement

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 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:
RCV000007827.12

Allele description [Variation Report for NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)]

NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)

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.1129C>T (p.Gln377Ter)
HGVS:
  • NC_000022.11:g.37973767G>A
  • NG_007948.1:g.15766C>T
  • NM_001301130.2:c.293+6597G>A
  • NM_001301131.2:c.293+6597G>A
  • NM_001363825.1:c.*38+1457G>A
  • NM_006941.4:c.1129C>TMANE SELECT
  • NP_008872.1:p.Gln377Ter
  • NP_008872.1:p.Gln377Ter
  • LRG_271t1:c.1129C>T
  • LRG_271:g.15766C>T
  • LRG_271p1:p.Gln377Ter
  • NC_000022.10:g.38369774G>A
  • NM_006941.3:c.1129C>T
Protein change:
Q377*; GLN377TER
Links:
OMIM: 602229.0010; dbSNP: rs74315520
NCBI 1000 Genomes Browser:
rs74315520
Molecular consequence:
  • NM_001301130.2:c.293+6597G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+6597G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+1457G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006941.4:c.1129C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028032OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 1999) 		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

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.

Southard-Smith EM, Angrist M, Ellison JS, Agarwala R, Baxevanis AD, Chakravarti A, Pavan WJ.

Genome Res. 1999 Mar;9(3):215-25.

PubMed [citation]
PMID:
10077527

Details of each submission

From OMIM, SCV000028032.2

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

Description

In a boy with Waardenburg syndrome type 4C (613266), Southard-Smith et al. (1999) found a gln377-to-ter (Q377X) mutation that truncated the SOX10 protein within the transcription modulation domain. The heterozygous proband had sensorineural deafness and variable diagnoses of enteric function ranging from hypoganglionosis to long segment Hirschsprung disease. He also had nystagmus and ataxic cerebral palsy. His sister was also profoundly deaf and had nystagmus and cerebral palsy, but did not have Hirschsprung disease (WS2E; 611584).

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

Last Updated: May 12, 2024