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

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:: RCV000002625.3

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:: Camptomelic dysplasia (CMPD)
Synonyms:: CMPD1/SRA1; Campomelic Dysplasia
Identifiers:: MONDO: MONDO:0007251; MedGen: C1861922; Orphanet: 140; OMIM: 114290

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022783	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022783

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 1995)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000022783.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

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

Last Updated: Jul 16, 2023

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