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NM_006941.4(SOX10):c.429-1G>A AND Waardenburg syndrome type 4A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 24, 2018
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:
RCV000722042.10

Allele description [Variation Report for NM_006941.4(SOX10):c.429-1G>A]

NM_006941.4(SOX10):c.429-1G>A

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.429-1G>A
HGVS:
  • NC_000022.11:g.37978136C>T
  • NG_007948.1:g.11397G>A
  • NM_001301130.2:c.294-8018C>T
  • NM_001301131.2:c.293+10966C>T
  • NM_001363825.1:c.*38+5826C>T
  • NM_006941.4:c.429-1G>AMANE SELECT
  • LRG_271:g.11397G>A
  • NC_000022.10:g.38374143C>T
Links:
dbSNP: rs1569169328
NCBI 1000 Genomes Browser:
rs1569169328
Molecular consequence:
  • NM_001301130.2:c.294-8018C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+10966C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+5826C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006941.4:c.429-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000844983Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 24, 2018) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations, SCV000844983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)

Description

The c.429-1G>A variant in SOX10 gene was reported in patient with Hirschsprung's disease and deafness. To our knowledge, this variant is absent from population databases. The variant affects the canonical slice site, had arisen de novo and thus meets the ACMG criteria for pathogenic variants.

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

Last Updated: Sep 1, 2024