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NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del) AND Waardenburg syndrome type 4A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 7, 2018
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:
RCV000761189.10

Allele description [Variation Report for NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del)]

NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del)

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.1315_1329del (p.Ile439_Ser443del)
HGVS:
  • NC_000022.11:g.37973568_37973582del
  • NG_007948.1:g.15952_15966del
  • NM_001301130.2:c.293+6398_293+6412del
  • NM_001301131.2:c.293+6398_293+6412del
  • NM_001363825.1:c.*38+1258_*38+1272del
  • NM_006941.4:c.1315_1329delMANE SELECT
  • NP_008872.1:p.Ile439_Ser443del
  • NP_008872.1:p.Ile439_Ser443del
  • LRG_271t1:c.1315_1329del
  • LRG_271:g.15952_15966del
  • NC_000022.10:g.38369575_38369589del
  • NM_006941.3:c.1314_1328delCATCTCTGACCCCAG
  • NM_006941.3:c.1315_1329del
Links:
dbSNP: rs1569167515
NCBI 1000 Genomes Browser:
rs1569167515
Molecular consequence:
  • NM_006941.4:c.1315_1329del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001301130.2:c.293+6398_293+6412del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+6398_293+6412del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+1258_*38+1272del - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
variation affecting protein function [Variation Ontology: 0003]

Condition(s)

Name:
Waardenburg syndrome type 4A (WS4A)
Synonyms:
WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A; Hirschsprung disease with pigmentary anomaly
Identifiers:
MONDO: MONDO:0010192; MedGen: C1848519; Orphanet: 897; OMIM: 277580

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000886896Hereditary Hearing Loss Research Unit, University of Madras
no assertion criteria provided
Pathogenic
(Mar 7, 2018) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South Indianinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Hereditary Hearing Loss Research Unit, University of Madras, SCV000886896.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South Indian1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 1, 2024