NM_001369268.1(ACAN):c.37del (p.Val13fs) AND Spondyloepimetaphyseal dysplasia, aggrecan type

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 11, 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:: RCV001028102.1

Allele description [Variation Report for NM_001369268.1(ACAN):c.37del (p.Val13fs)]

NM_001369268.1(ACAN):c.37del (p.Val13fs)

Gene:

ACAN:aggrecan [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_001369268.1(ACAN):c.37del (p.Val13fs)

HGVS:

NC_000015.10:g.88836243del
NG_012794.1:g.37801del
NM_001135.4:c.37del
NM_001369268.1:c.37delMANE SELECT
NM_013227.4:c.37del
NP_001126.3:p.Val13fs
NP_001356197.1:p.Val13fs
NP_037359.3:p.Val13fs
NC_000015.9:g.89379474del
NM_013227.3:c.37delG

Protein change:

V13fs

Links:

dbSNP: rs1596128744

NCBI 1000 Genomes Browser:

rs1596128744

Molecular consequence:

NM_001135.4:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369268.1:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013227.4:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Spondyloepimetaphyseal dysplasia, aggrecan type
Identifiers:: MONDO: MONDO:0013014; MedGen: C2748544; Orphanet: 171866; OMIM: 612813

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190887	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 11, 2019)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001190887

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 11, 2019)

unknown

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	1	not provided	not provided	1	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS, SCV001190887.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

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

Last Updated: Jul 29, 2023

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