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NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) AND Campomelic dysplasia with autosomal sex reversal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 26, 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:
RCV000853284.2

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]
Observations:
1

Condition(s)

Name:
Campomelic dysplasia with autosomal sex reversal
Identifiers:
MedGen: C1842462

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000996119Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 26, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV000996119.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This variant has been previously reported in an individual with multiple congenital anomalies (PMID: 26633542). Different missense variants affecting the same amino acid residue (p.Pro170Leu, p.Pro170Arg) have been reported in patients with acampomelic and campomelic dyplasia respectively (PMID: 19921652; 9002675). The p.Pro170Ser variant detected in this individual is absent from the ExAC and gnomAD population databases. It occurs at a highly conserved amino acid and is predicted by multiple in silico tools to be damaging to protein function. Based on the available evidence, the p.Pro170Ser variant in SOX9 is classified as a pathogenic change.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 14, 2024