NM_000346.4(SOX9):c.1103dup (p.Gln369fs) AND Campomelic dysplasia with autosomal sex reversal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 1995
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:
RCV000002626.3

Allele description [Variation Report for NM_000346.4(SOX9):c.1103dup (p.Gln369fs)]

NM_000346.4(SOX9):c.1103dup (p.Gln369fs)

Gene:
SOX9:SRY-box transcription factor 9 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q24.3
Genomic location:
Preferred name:
NM_000346.4(SOX9):c.1103dup (p.Gln369fs)
HGVS:
  • NC_000017.11:g.72123960dup
  • NG_012490.1:g.7941dup
  • NM_000346.4:c.1103dupMANE SELECT
  • NP_000337.1:p.Gln369fs
  • NC_000017.10:g.70120101dup
  • NM_000346.3:c.1103dupA
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
Q369fs
Links:
OMIM: 608160.0013; dbSNP: rs1598176785
NCBI 1000 Genomes Browser:
rs1598176785
Molecular consequence:
  • NM_000346.4:c.1103dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000022784OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 1995) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID, et al.

Am J Hum Genet. 1995 Nov;57(5):1028-36.

PubMed [citation]
PMID:
7485151
PMCID:
PMC1801368

Details of each submission

From OMIM, SCV000022784.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 46,XY patient with campomelic dysplasia (114290) and a 46,XY patient with campomelic dysplasia and autosomal sex reversal (see 114290), Kwok et al. (1995) identified heterozygosity for a 1-bp insertion (1103insA) in the SOX9 gene, causing a frameshift at codon 368 and resulting in an early termination signal at nucleotide 1671. The authors attributed the difference in sexual phenotype of these two 46,XY individuals to incomplete penetrance of the disease that might result from differences in genetic background.

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

Last Updated: Jul 16, 2023