NM_000346.4(SOX9):c.1287C>A (p.Ser429Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 22, 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:: RCV000756681.9

Allele description [Variation Report for NM_000346.4(SOX9):c.1287C>A (p.Ser429Arg)]

NM_000346.4(SOX9):c.1287C>A (p.Ser429Arg)

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.1287C>A (p.Ser429Arg)

HGVS:

NC_000017.11:g.72124144C>A
NG_012490.1:g.8125C>A
NM_000346.4:c.1287C>AMANE SELECT
NP_000337.1:p.Ser429Arg
NC_000017.10:g.70120285C>A
NM_000346.3:c.1287C>A

Protein change:

S429R

Links:

dbSNP: rs758181921

NCBI 1000 Genomes Browser:

rs758181921

Molecular consequence:

NM_000346.4:c.1287C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000884569	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Feb 22, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000884569

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Feb 22, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884569.1

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

Description

The p.Ser429Arg variant (rs758181921) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) identified on 2 chromosomes out of 241,780. The serine at position 429 is moderately conserved considering 13 species (Alamut v2.10) and computational analyses of the effects of the p.Ser429Arg variant on protein structure and function provide conflicting results (SIFT: damaging, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Ser429Arg variant with certainty.

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

Last Updated: Mar 4, 2023

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