U.S. flag

An official website of the United States government

NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1]) AND Camptomelic dysplasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 10, 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:
RCV001304745.5

Allele description [Variation Report for NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1])]

NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1])

Gene:
SOX9:SRY-box transcription factor 9 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q24.3
Genomic location:
Preferred name:
NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1])
HGVS:
  • NC_000017.11:g.72123958_72123978del
  • NG_012490.1:g.7939_7959del
  • NM_000346.4:c.1101_1121delMANE SELECT
  • NP_000337.1:p.364AAPPQQP[1]
  • NC_000017.10:g.70120094_70120114del
  • NC_000017.10:g.70120099_70120119del
Links:
dbSNP: rs753262382
NCBI 1000 Genomes Browser:
rs753262382
Molecular consequence:
  • NM_000346.4:c.1101_1121del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001494039Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 10, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001494039.4

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

Description

ClinVar contains an entry for this variant (Variation ID: 1007550). This variant, c.1101_1121del, results in the deletion of 7 amino acid(s) of the SOX9 protein (p.Ala371_Pro377del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753262382, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SOX9-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024