U.S. flag

An official website of the United States government

NM_006941.4(SOX10):c.479T>C (p.Leu160Pro) 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:
RCV001170065.10

Allele description [Variation Report for NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)]

NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)

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.479T>C (p.Leu160Pro)
HGVS:
  • NC_000022.11:g.37978085A>G
  • NG_007948.1:g.11448T>C
  • NM_001301130.2:c.294-8069A>G
  • NM_001301131.2:c.293+10915A>G
  • NM_001363825.1:c.*38+5775A>G
  • NM_006941.4:c.479T>CMANE SELECT
  • NP_008872.1:p.Leu160Pro
  • NP_008872.1:p.Leu160Pro
  • LRG_271t1:c.479T>C
  • LRG_271:g.11448T>C
  • LRG_271p1:p.Leu160Pro
  • NC_000022.10:g.38374092A>G
  • NM_006941.3:c.479T>C
Protein change:
L160P
Links:
dbSNP: rs1482985217
NCBI 1000 Genomes Browser:
rs1482985217
Molecular consequence:
  • NM_001301130.2:c.294-8069A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+10915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+5775A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006941.4:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Decreased function

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245525Department 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, SCV001245525.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedresearchnot provided

Description

1. de novo occurrence. 2. supporting evidences from functional studies: reporter assay confirmed sever disruption of MITF transcription activation activity ; subcellular localization study indicated deceased nuclear localization compared to wildtype SOX10.

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

Last Updated: Nov 10, 2024