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NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 28, 2023
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:
RCV003318624.1

Allele description [Variation Report for NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)]

NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)

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.508C>T (p.Pro170Ser)
HGVS:
  • NC_000017.11:g.72122795C>T
  • NG_012490.1:g.6776C>T
  • NM_000346.4:c.508C>TMANE SELECT
  • NP_000337.1:p.Pro170Ser
  • NC_000017.10:g.70118936C>T
  • NM_000346.3:c.508C>T
Protein change:
P170S
Links:
dbSNP: rs866706988
NCBI 1000 Genomes Browser:
rs866706988
Molecular consequence:
  • NM_000346.4:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004022800GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jul 28, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV004022800.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26633542, 34092239, 31019026)

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

Last Updated: Feb 14, 2024