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NM_006941.4(SOX10):c.707_714del (p.His236fs) AND Waardenburg syndrome type 2E

Germline classification:
Uncertain significance (1 submission)
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:
RCV002225935.10

Allele description [Variation Report for NM_006941.4(SOX10):c.707_714del (p.His236fs)]

NM_006941.4(SOX10):c.707_714del (p.His236fs)

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.707_714del (p.His236fs)
HGVS:
  • NC_000022.11:g.37974182_37974189del
  • NG_007948.1:g.15344_15351del
  • NM_001301130.2:c.293+7012_293+7019del
  • NM_001301131.2:c.293+7012_293+7019del
  • NM_001363825.1:c.*38+1872_*38+1879del
  • NM_006941.4:c.707_714delMANE SELECT
  • NP_008872.1:p.His236Profs
  • NP_008872.1:p.His236fs
  • LRG_271t1:c.707_714del
  • LRG_271:g.15344_15351del
  • LRG_271p1:p.His236Profs
  • NC_000022.10:g.38370189_38370196del
  • NM_006941.3:c.707_714delATGGCCCA
Protein change:
H236fs
Links:
dbSNP: rs2145762036
NCBI 1000 Genomes Browser:
rs2145762036
Molecular consequence:
  • NM_006941.4:c.707_714del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301130.2:c.293+7012_293+7019del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+7012_293+7019del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+1872_*38+1879del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV001984752Department of Pediatrics, The Seventh Affiliated Hospital of Guangxi Medical University (Wuzhou GongRen Hospital)
no assertion criteria provided
Uncertain significancede novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiade novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pediatrics, The Seventh Affiliated Hospital of Guangxi Medical University (Wuzhou GongRen Hospital), SCV001984752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asia1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024