NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter) 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:: RCV001290179.10

Allele description [Variation Report for NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)]

NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)

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.1063C>T (p.Gln355Ter)

HGVS:

NC_000022.11:g.37973833G>A
NG_007948.1:g.15700C>T
NM_001301130.2:c.293+6663G>A
NM_001301131.2:c.293+6663G>A
NM_001363825.1:c.*38+1523G>A
NM_006941.4:c.1063C>TMANE SELECT
NP_008872.1:p.Gln355Ter
NP_008872.1:p.Gln355Ter
LRG_271t1:c.1063C>T
LRG_271:g.15700C>T
LRG_271p1:p.Gln355Ter
NC_000022.10:g.38369840G>A
NM_006941.3:c.1063C>T

Protein change:

Q355*

Links:

dbSNP: rs1932137446

NCBI 1000 Genomes Browser:

rs1932137446

Molecular consequence:

NM_001301130.2:c.293+6663G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001301131.2:c.293+6663G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001363825.1:c.*38+1523G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_006941.4:c.1063C>T - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001478237	Genetic 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)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001478237

Genetic 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)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV001478237.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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