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NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr) AND Spondylocostal dysostosis 2, autosomal recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 23, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001278303.1

Allele description [Variation Report for NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr)]

NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr)

Gene:
MESP2:mesoderm posterior bHLH transcription factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr)
HGVS:
  • NC_000015.10:g.89776553G>A
  • NG_008608.1:g.5196G>A
  • NG_008608.2:g.20963G>A
  • NM_001039958.2:c.196G>AMANE SELECT
  • NP_001035047.1:p.Ala66Thr
  • LRG_1304t1:c.196G>A
  • LRG_1304:g.20963G>A
  • LRG_1304p1:p.Ala66Thr
  • NC_000015.9:g.90319784G>A
Protein change:
A66T
Links:
dbSNP: rs1319032121
NCBI 1000 Genomes Browser:
rs1319032121
Molecular consequence:
  • NM_001039958.2:c.196G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spondylocostal dysostosis 2, autosomal recessive
Synonyms:
Spondylothoracic Dysostosis; Spondylocostal dysostosis type 2
Identifiers:
MONDO: MONDO:0012097; MedGen: C1837549; Orphanet: 2311; OMIM: 608681

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001465303Natera, Inc.
no assertion criteria provided
Uncertain significance
(Apr 23, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001465303.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022