NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup) AND Leri-Weill dyschondrosteosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 24, 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:: RCV002246698.2

Allele description [Variation Report for NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup)]

NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup)

Gene:

SHOX:SHOX homeobox [Gene - OMIM - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xp22.33

Genomic location:

Preferred name:

NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup)

HGVS:

NC_000023.11:g.630963AGGCGG[3]
NC_000024.10:g.630963AGGCGG[3]
NG_009385.2:g.11620AGGCGG[3]
NM_000451.4:c.66AGGCGG[3]MANE SELECT
NM_006883.2:c.66AGGCGG[3]
NP_000442.1:p.Gly27_Gly28dup
NP_006874.1:p.Gly27_Gly28dup
LRG_710t1:c.66AGGCGG[3]
LRG_710t2:c.66AGGCGG[3]
LRG_710:g.11620AGGCGG[3]
LRG_710p1:p.Gly27_Gly28dup
LRG_710p2:p.Gly27_Gly28dup
NC_000023.10:g.591698AGGCGG[3]
NC_000023.11:g.630957_630958insGGCGGA
NC_000024.9:g.541698AGGCGG[3]

Links:

dbSNP: rs747349135

NCBI 1000 Genomes Browser:

rs747349135

Molecular consequence:

NM_000451.4:c.66AGGCGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_006883.2:c.66AGGCGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Leri-Weill dyschondrosteosis (LWD)
Synonyms:: Dyschondrosteosis; Léri-Weill dyschondrosteosis
Identifiers:: MONDO: MONDO:0007481; MedGen: C0265309; OMIM: 127300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002519728	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Uncertain significance (Jul 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002519728

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Uncertain significance
(Jul 24, 2023)

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 Mendelics, SCV002519728.2

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

#	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: Dec 24, 2023

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