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NM_000346.4(SOX9):c.196G>T (p.Glu66Ter) AND Campomelic dysplasia with autosomal sex reversal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 26, 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:
RCV000853297.1

Allele description [Variation Report for NM_000346.4(SOX9):c.196G>T (p.Glu66Ter)]

NM_000346.4(SOX9):c.196G>T (p.Glu66Ter)

Genes:
LOC108021846:SOX9 promoter region [Gene]
SOX9:SRY-box transcription factor 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.3
Genomic location:
Preferred name:
NM_000346.4(SOX9):c.196G>T (p.Glu66Ter)
HGVS:
  • NC_000017.11:g.72121587G>T
  • NG_012490.1:g.5568G>T
  • NG_050876.1:g.1403G>T
  • NM_000346.4:c.196G>TMANE SELECT
  • NP_000337.1:p.Glu66Ter
  • NC_000017.10:g.70117728G>T
  • NM_000346.3:c.196G>T
Protein change:
E66*
Links:
dbSNP: rs759597531
NCBI 1000 Genomes Browser:
rs759597531
Molecular consequence:
  • NM_000346.4:c.196G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Campomelic dysplasia with autosomal sex reversal
Identifiers:
MedGen: C1842462

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000996137Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 26, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical 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 Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV000996137.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This variant has not been previously reported in affected individuals. The c.196G>T (p.Glu66Ter) variant detected in this individual is absent from the ExAC and gnomAD population databases. This variant is predicted to interrupt the reading frame with a premature stop codon, leading to reduced protein abundance via nonsense mediated decay. Based on the available evidence, the c.196G>T (p.Glu66Ter) variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022