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NM_006941.4(SOX10):c.323T>C (p.Met108Thr) AND Waardenburg syndrome type 2E

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
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:
RCV001290167.10

Allele description [Variation Report for NM_006941.4(SOX10):c.323T>C (p.Met108Thr)]

NM_006941.4(SOX10):c.323T>C (p.Met108Thr)

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.323T>C (p.Met108Thr)
HGVS:
  • NC_000022.11:g.37983462A>G
  • NG_007948.1:g.6071T>C
  • NG_148296.1:g.739A>G
  • NM_001301130.2:c.294-2692A>G
  • NM_001301131.2:c.293+16292A>G
  • NM_001363825.1:c.*38+11152A>G
  • NM_006941.4:c.323T>CMANE SELECT
  • NP_008872.1:p.Met108Thr
  • NP_008872.1:p.Met108Thr
  • LRG_271t1:c.323T>C
  • LRG_271:g.6071T>C
  • LRG_271p1:p.Met108Thr
  • NC_000022.10:g.38379469A>G
  • NM_006941.3:c.323T>C
Protein change:
M108T
Links:
dbSNP: rs1932464492
NCBI 1000 Genomes Browser:
rs1932464492
Molecular consequence:
  • NM_001301130.2:c.294-2692A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+16292A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+11152A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006941.4:c.323T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001478224Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2019) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

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 Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV001478224.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024