NM_080680.3(COL11A2):c.1292del (p.Pro431fs) AND Otospondylomegaepiphyseal dysplasia, autosomal recessive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000987676.1

Allele description [Variation Report for NM_080680.3(COL11A2):c.1292del (p.Pro431fs)]

NM_080680.3(COL11A2):c.1292del (p.Pro431fs)

Gene:

COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.32

Genomic location:

Preferred name:

NM_080680.3(COL11A2):c.1292del (p.Pro431fs)

HGVS:

NC_000006.12:g.33180330del
NG_011589.1:g.17144del
NM_080679.3:c.971del
NM_080680.3:c.1292delMANE SELECT
NM_080681.3:c.1034del
NP_542410.2:p.Pro324fs
NP_542411.2:p.Pro431fs
NP_542412.2:p.Pro345fs
NC_000006.11:g.33148102delG
NC_000006.11:g.33148107del

Protein change:

P324fs

Links:

dbSNP: rs1583351636

NCBI 1000 Genomes Browser:

rs1583351636

Molecular consequence:

NM_080679.3:c.971del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080680.3:c.1292del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080681.3:c.1034del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB)
Synonyms:: Nance Sweeney chondrodysplasia; Chondrodystrophy with sensorineural deafness; Insley-Astley syndrome
Identifiers:: MONDO: MONDO:0044206; MedGen: C5551484; Orphanet: 1427; OMIM: 215150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001137092	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001137092

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137092.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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