NM_000346.4(SOX9):c.1018C>T (p.Gln340Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 13, 2017
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:: RCV000578794.1

Allele description [Variation Report for NM_000346.4(SOX9):c.1018C>T (p.Gln340Ter)]

NM_000346.4(SOX9):c.1018C>T (p.Gln340Ter)

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.1018C>T (p.Gln340Ter)

HGVS:

NC_000017.11:g.72123875C>T
NG_012490.1:g.7856C>T
NM_000346.4:c.1018C>TMANE SELECT
NP_000337.1:p.Gln340Ter
NC_000017.10:g.70120016C>T
NM_000346.3:c.1018C>T

Protein change:

Q340*

Links:

dbSNP: rs1339655148

NCBI 1000 Genomes Browser:

rs1339655148

Molecular consequence:

NM_000346.4:c.1018C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Nucleotide Links for GEO Profiles (Select 93748910) (18)
Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000681054	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Oct 13, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000681054

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Oct 13, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000681054.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The Q340X nonsense variant in the SOX9 gene is predicted to cause loss of normal protein function through protein truncation as the last 170 amnio acids are deleted. The Q340X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with a diagnosis of campomelic dysplasia

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine