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NM_006941.4(SOX10):c.271_275del (p.Pro91fs) AND Waardenburg syndrome type 4C

Germline classification:
Likely pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000119814.10

Allele description [Variation Report for NM_006941.4(SOX10):c.271_275del (p.Pro91fs)]

NM_006941.4(SOX10):c.271_275del (p.Pro91fs)

Genes:
POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_006941.4(SOX10):c.271_275del (p.Pro91fs)
HGVS:
  • NC_000022.11:g.37983510_37983514del
  • NG_007948.1:g.6019_6023del
  • NG_148296.1:g.787_791del
  • NM_001301130.2:c.294-2644_294-2640del
  • NM_001301131.2:c.293+16340_293+16344del
  • NM_001363825.1:c.*38+11200_*38+11204del
  • NM_006941.4:c.271_275delMANE SELECT
  • NP_008872.1:p.Pro91Alafs
  • NP_008872.1:p.Pro91fs
  • LRG_271t1:c.271_275del
  • LRG_271:g.6019_6023del
  • LRG_271p1:p.Pro91Alafs
  • NC_000022.10:g.38379517_38379521del
  • NM_006941.3:c.271_275delCCCGT
  • NM_006941.3:c.271_275delCCCGT
Protein change:
P91fs
Links:
dbSNP: rs483353057
NCBI 1000 Genomes Browser:
rs483353057
Molecular consequence:
  • NM_006941.4:c.271_275del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301130.2:c.294-2644_294-2640del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+16340_293+16344del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+11200_*38+11204del - 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
SCV000154740Molecular Genetics Laboratory; Baylor College of Medicine
criteria provided, single submitter

(Submitter's publication)		probable-pathogenicnot providednot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

Tang HY, Fang P, Lin JW, Darilek S, Osborne BT, Haymond JA, Manolidis S, Roa BB, Oghalai JS, Alford RL.

BMJ Open. 2015 May 19;5(5):e007506. doi: 10.1136/bmjopen-2014-007506.

PubMed [citation]
PMID:
25991456
PMCID:
PMC4442153

Details of each submission

From Molecular Genetics Laboratory; Baylor College of Medicine, SCV000154740.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024