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NM_006941.4(SOX10):c.1379del (p.Tyr460fs) AND Waardenburg syndrome type 2E

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 2, 2020
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:
RCV001170069.10

Allele description [Variation Report for NM_006941.4(SOX10):c.1379del (p.Tyr460fs)]

NM_006941.4(SOX10):c.1379del (p.Tyr460fs)

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.1379del (p.Tyr460fs)
HGVS:
  • NC_000022.11:g.37973517del
  • NG_007948.1:g.16016del
  • NM_001301130.2:c.293+6347del
  • NM_001301131.2:c.293+6347del
  • NM_001363825.1:c.*38+1207del
  • NM_006941.4:c.1379delMANE SELECT
  • NP_008872.1:p.Tyr460Leufs
  • NP_008872.1:p.Tyr460fs
  • LRG_271t1:c.1379del
  • LRG_271:g.16016del
  • LRG_271p1:p.Tyr460Leufs
  • NC_000022.10:g.38369524del
  • NM_006941.3:c.1379delA
Protein change:
Y460fs
Links:
dbSNP: rs1932122748
NCBI 1000 Genomes Browser:
rs1932122748
Molecular consequence:
  • NM_006941.4:c.1379del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301130.2:c.293+6347del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+6347del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+1207del - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
C-terminal protein elongation [Variation Ontology: 0125]

Condition(s)

Name:
Waardenburg syndrome type 2E (WS2E)
Synonyms:
WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT; WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT; HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION
Identifiers:
MONDO: MONDO:0012698; MedGen: C2700405; Orphanet: 3440; OMIM: 611584

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245532Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
no assertion criteria provided
Pathogenic
(May 2, 2020) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asiande novoyes1not providednot providednot providednot providedresearch

Details of each submission

From Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, SCV001245532.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedresearchnot provided

Description

1. de novo occurrence. 2. The altered protein is predicted to a partially loss of transactivation domain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024