NM_000451.4(SHOX):c.805del (p.Ser269fs) AND Leri-Weill dyschondrosteosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 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:: RCV002246706.1

Allele description [Variation Report for NM_000451.4(SHOX):c.805del (p.Ser269fs)]

NM_000451.4(SHOX):c.805del (p.Ser269fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xp22.33

Genomic location:

Preferred name:

NM_000451.4(SHOX):c.805del (p.Ser269fs)

HGVS:

NC_000023.11:g.644562del
NC_000024.10:g.644562del
NG_009385.2:g.25219del
NM_000451.4:c.805delMANE SELECT
NM_006883.2:c.633+3475del
NP_000442.1:p.Ser269fs
LRG_710t1:c.805del
LRG_710t2:c.633+3475del
LRG_710:g.25219del
LRG_710p1:p.Ser269fs
NC_000023.10:g.605297del
NC_000023.11:g.644559_644559delA
NC_000024.9:g.555297del

Protein change:

S269fs

Links:

dbSNP: rs1569495224

NCBI 1000 Genomes Browser:

rs1569495224

Molecular consequence:

NM_000451.4:c.805del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006883.2:c.633+3475del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002519740	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002519740

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 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 Mendelics, SCV002519740.1

#	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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