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NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) 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:
RCV000007819.12

Allele description [Variation Report for NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)]

NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)

Genes:
POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)
HGVS:
  • NC_000022.11:g.37978081_37978082insAGGAGC
  • NG_007948.1:g.11451_11452insGCTCCT
  • NM_001301130.2:c.294-8073_294-8072insAGGAGC
  • NM_001301131.2:c.293+10911_293+10912insAGGAGC
  • NM_001363825.1:c.*38+5771_*38+5772insAGGAGC
  • NM_006941.4:c.482_483insGCTCCTMANE SELECT
  • NP_008872.1:p.Arg161_Met162insLeuLeu
  • NP_008872.1:p.Arg161_Met162insLeuLeu
  • LRG_271t1:c.482_483insGCTCCT
  • LRG_271:g.11451_11452insGCTCCT
  • LRG_271p1:p.Arg161_Met162insLeuLeu
  • NC_000022.10:g.38374088_38374089insAGGAGC
  • NM_006941.3:c.482_483insGCTCCT
Links:
OMIM: 602229.0003; dbSNP: rs397515366
NCBI 1000 Genomes Browser:
rs397515366
Molecular consequence:
  • NM_006941.4:c.482_483insGCTCCT - inframe insertion - [Sequence Ontology: SO:0001821]
  • NM_001301130.2:c.294-8073_294-8072insAGGAGC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+10911_293+10912insAGGAGC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+5771_*38+5772insAGGAGC - 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
SCV000028024OMIM
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, SCV000028024.2

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

Description

In a patient with deafness and short segment aganglionosis (613266), Pingault et al. (1998) found a heterozygous 6-bp insertion (GCTCCT) between nucleotides 482 and 483 in exon 4 of the SOX10 gene. The mutation resulted in duplication of arg161leu162 in the middle of helix 3 of the HMG domain. This duplication changed the spacing between 2 highly conserved residues and was likely to disrupt the structure of the DNA-binding domain.

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

Last Updated: Nov 10, 2024