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NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) 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:
RCV000007820.12

Allele description [Variation Report for NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs)]

NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs)

Genes:
POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs)
HGVS:
  • NC_000022.11:g.37973819CT[1]
  • NG_007948.1:g.15712GA[1]
  • NM_001301130.2:c.293+6651_293+6652del
  • NM_001301131.2:c.293+6651_293+6652del
  • NM_001363825.1:c.*38+1511_*38+1512del
  • NM_006941.4:c.1077_1078delMANE SELECT
  • NP_008872.1:p.Glu359Aspfs
  • NP_008872.1:p.Glu359fs
  • LRG_271t1:c.1074_1075AG[1]
  • LRG_271:g.15712GA[1]
  • LRG_271p1:p.Glu359Aspfs
  • NC_000022.10:g.38369825_38369826del
  • NC_000022.10:g.38369826CT[1]
  • NM_006941.3:c.1074_1075AG[1]
  • NM_006941.3:c.1077_1078del
Protein change:
E359fs
Links:
OMIM: 602229.0004; dbSNP: rs397515367
NCBI 1000 Genomes Browser:
rs397515367
Molecular consequence:
  • NM_006941.4:c.1077_1078del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301130.2:c.293+6651_293+6652del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+6651_293+6652del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+1511_*38+1512del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000028025OMIM
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, SCV000028025.2

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

Description

In a patient with HSCR, deafness, and hypopigmentation (613266), Pingault et al. (1998) identified a heterozygous 2-bp deletion (1076delGA) in exon 5 of the SOX10 gene, resulting in a frameshift that altered the mRNA sequence and introduced a premature termination codon at position 400. This and the other 3 mutations identified by Pingault et al. (1998) were likely to result in a loss of function, suggesting that the pathologic mechanism in Waardenburg-Shah syndrome is haploinsufficiency and that the developmental process is sensitive to the exact level of the SOX10 product.

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

Last Updated: Nov 3, 2024