NM_006941.4(SOX10):c.366_376del (p.Ala123fs) AND Waardenburg syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 26, 2021
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:: RCV001775029.11

Allele description [Variation Report for NM_006941.4(SOX10):c.366_376del (p.Ala123fs)]

NM_006941.4(SOX10):c.366_376del (p.Ala123fs)

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.366_376del (p.Ala123fs)

HGVS:

NC_000022.11:g.37983410_37983420del
NG_007948.1:g.6114_6124del
NG_148296.1:g.687_697del
NM_001301130.2:c.294-2744_294-2734del
NM_001301131.2:c.293+16240_293+16250del
NM_001363825.1:c.*38+11100_*38+11110del
NM_006941.4:c.366_376delMANE SELECT
NP_008872.1:p.Ala123Profs
NP_008872.1:p.Ala123fs
LRG_271t1:c.365_375del
LRG_271:g.6114_6124del
LRG_271p1:p.Ala123Profs
NC_000022.10:g.38379417_38379427del
NM_006941.3:c.365_375delTCGCGGACCAG

Protein change:

A123fs

Links:

dbSNP: rs2145776991

NCBI 1000 Genomes Browser:

rs2145776991

Molecular consequence:

NM_006941.4:c.366_376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001301130.2:c.294-2744_294-2734del - intron variant - [Sequence Ontology: SO:0001627]
NM_001301131.2:c.293+16240_293+16250del - intron variant - [Sequence Ontology: SO:0001627]
NM_001363825.1:c.*38+11100_*38+11110del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Waardenburg syndrome type 1 (WS1)
Synonyms:: WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM; Waardenburg's syndrome type 1
Identifiers:: MONDO: MONDO:0008670; MedGen: C1847800; OMIM: 193500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001573793	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	no assertion criteria provided	Pathogenic (Apr 26, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001573793

Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

no assertion criteria provided

Pathogenic
(Apr 26, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV001573793.2

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

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

Last Updated: Oct 26, 2024

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