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NM_003106.4(SOX2):c.181C>T (p.Gln61Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2016
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:
RCV000265106.1

Allele description [Variation Report for NM_003106.4(SOX2):c.181C>T (p.Gln61Ter)]

NM_003106.4(SOX2):c.181C>T (p.Gln61Ter)

Genes:
LOC108281177:SOX2 5' regulatory region [Gene]
SOX2-OT:SOX2 overlapping transcript [Gene - OMIM - HGNC]
SOX2:SRY-box transcription factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.33
Genomic location:
Preferred name:
NM_003106.4(SOX2):c.181C>T (p.Gln61Ter)
HGVS:
  • NC_000003.12:g.181712541C>T
  • NG_009080.1:g.5608C>T
  • NM_003106.4:c.181C>TMANE SELECT
  • NP_003097.1:p.Gln61Ter
  • LRG_719:g.5608C>T
  • NC_000003.11:g.181430329C>T
  • NM_003106.3:c.181C>T
Protein change:
Q61*
Links:
dbSNP: rs886041378
NCBI 1000 Genomes Browser:
rs886041378
Molecular consequence:
  • NM_003106.4:c.181C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000329898GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 15, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000329898.4

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

Description

The Q61X pathogenic variant in the SOX2 gene has been reported previously in association with anophthalmia and pituitary anomalies including hypogonadotropic hypogonadism (Ragge et al., 2013; Kelberman et al., 2008). This variant is predicted to cause loss of normal protein function through protein truncation, and in vitro studies demonstrate that the Q61X variant results in complete loss of transciptional DNA binding and protein mislocalization (Kelberman et al., 2008). The Q61X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q61X as a pathogenic variant.

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

Last Updated: Mar 26, 2023