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NM_006941.4(SOX10):c.373C>T (p.Gln125Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 16, 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:
RCV000760743.10

Allele description [Variation Report for NM_006941.4(SOX10):c.373C>T (p.Gln125Ter)]

NM_006941.4(SOX10):c.373C>T (p.Gln125Ter)

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.373C>T (p.Gln125Ter)
HGVS:
  • NC_000022.11:g.37983412G>A
  • NG_007948.1:g.6121C>T
  • NG_148296.1:g.689G>A
  • NM_001301130.2:c.294-2742G>A
  • NM_001301131.2:c.293+16242G>A
  • NM_001363825.1:c.*38+11102G>A
  • NM_006941.4:c.373C>TMANE SELECT
  • NP_008872.1:p.Gln125Ter
  • NP_008872.1:p.Gln125Ter
  • LRG_271t1:c.373C>T
  • LRG_271:g.6121C>T
  • LRG_271p1:p.Gln125Ter
  • NC_000022.10:g.38379419G>A
  • NM_006941.3:c.373C>T
Protein change:
Q125*
Links:
dbSNP: rs1569171175
NCBI 1000 Genomes Browser:
rs1569171175
Molecular consequence:
  • NM_001301130.2:c.294-2742G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301131.2:c.293+16242G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363825.1:c.*38+11102G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006941.4:c.373C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000890636GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Oct 16, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000890636.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q125X nonsense variant has not been published as a germline variant to our knowledge, and has only been observed as a somatic variant in a melanoma sample (Cronin et al., 2009). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024