U.S. flag

An official website of the United States government

NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) AND Pelviscapular dysplasia

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Oct 30, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV001270113.3

Allele description [Variation Report for NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)]

NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)

Gene:
TBX15:T-box transcription factor 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p12
Genomic location:
Preferred name:
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
HGVS:
  • NC_000001.11:g.118885216C>T
  • NG_013361.1:g.109341G>A
  • NM_001330677.2:c.1325G>AMANE SELECT
  • NM_152380.2:c.1007G>A
  • NM_152380.3:c.1007G>A
  • NP_001317606.1:p.Arg442Lys
  • NP_689593.2:p.Arg336Lys
  • NC_000001.10:g.119427839C>T
  • NM_152380.3:c.1007G>A
Protein change:
R336K
Links:
dbSNP: rs144291418
NCBI 1000 Genomes Browser:
rs144291418
Molecular consequence:
  • NM_001330677.2:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152380.3:c.1007G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Pelviscapular dysplasia
Synonyms:
Cousin syndrome; Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature
Identifiers:
MONDO: MONDO:0009845; MedGen: C1850040; Orphanet: 93333; OMIM: 260660

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
SCV001448964Knight Diagnostic Laboratories, Oregon Health and Sciences University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 18, 2019) 		germlineclinical testing

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

SCV004237883Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Oct 30, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot 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 Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448964.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Revvity Omics, Revvity, SCV004237883.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024