NM_001039958.2(MESP2):c.401_411dup (p.Val138fs) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 2022
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:: RCV002223060.1

Allele description [Variation Report for NM_001039958.2(MESP2):c.401_411dup (p.Val138fs)]

NM_001039958.2(MESP2):c.401_411dup (p.Val138fs)

Genes:

LOC130057891:ATAC-STARR-seq lymphoblastoid silent region 6806 [Gene]
MESP2:mesoderm posterior bHLH transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_001039958.2(MESP2):c.401_411dup (p.Val138fs)

HGVS:

NC_000015.10:g.89776758_89776768dup
NG_008608.2:g.21168_21178dup
NM_001039958.2:c.401_411dupMANE SELECT
NP_001035047.1:p.Val138fs
LRG_1304t1:c.401_411dup
LRG_1304:g.21168_21178dup
LRG_1304p1:p.Val138fs
NC_000015.9:g.90319981_90319982insATCGGCCACCT
NC_000015.9:g.90319989_90319999dup
NM_001039958.1:c.401_411dup11

Protein change:

V138fs

Links:

dbSNP: rs1218757887

NCBI 1000 Genomes Browser:

rs1218757887

Molecular consequence:

NM_001039958.2:c.401_411dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002500687	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Mar 28, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002500687

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Mar 28, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002500687.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Variant summary: MESP2 c.401_411dup11 (p.Val138ThrfsX347) causes a frameshift which results in an extension of the protein. The variant was absent in 166732 control chromosomes (gnomAD). To our knowledge, no occurrence of c.401_411dup11 in individuals affected with Spondylocostal Dysostosis 2 and no experimental evidence demonstrating its impact on protein function have been reported. A similar protein extension, c.599delA (p.Gln200Argfs*281), has been reported in associated with abnormality of the skeletal system in HGMD. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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