NM_006941.4(SOX10):c.231_234dup (p.Val79fs) AND SOX10-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 20, 2023
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:: RCV004527890.1

Allele description [Variation Report for NM_006941.4(SOX10):c.231_234dup (p.Val79fs)]

NM_006941.4(SOX10):c.231_234dup (p.Val79fs)

Genes:

POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_006941.4(SOX10):c.231_234dup (p.Val79fs)

HGVS:

NC_000022.11:g.37983554_37983557dup
NG_007948.1:g.5979_5982dup
NG_148296.1:g.831_834dup
NM_001301130.2:c.294-2600_294-2597dup
NM_001301131.2:c.293+16384_293+16387dup
NM_001363825.1:c.*38+11244_*38+11247dup
NM_006941.4:c.231_234dupMANE SELECT
NP_008872.1:p.Val79Profs
NP_008872.1:p.Val79fs
LRG_271t1:c.228_231dup
LRG_271:g.5979_5982dup
LRG_271p1:p.Val79Profs
NC_000022.10:g.38379561_38379564dup
NM_006941.3:c.228_231dup
NM_006941.3:c.231_234dupCCAG

Protein change:

V79fs

Molecular consequence:

NM_006941.4:c.231_234dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001301130.2:c.294-2600_294-2597dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001301131.2:c.293+16384_293+16387dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001363825.1:c.*38+11244_*38+11247dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: SOX10-related disorder
Synonyms:: SOX10-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004112480	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 20, 2023)	germline	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

SCV004112480

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 20, 2023)

germline

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	germline	unknown	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 PreventionGenetics, part of Exact Sciences, SCV004112480.1

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

Description

The SOX10 c.231_234dupCCAG variant is predicted to result in a frameshift and premature protein termination (p.Val79Profs*56). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in SOX10 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 8, 2024

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