NM_001844.5(COL2A1):c.491del (p.Pro164fs) AND Stickler syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Apr 24, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000850370.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.491del (p.Pro164fs)]

NM_001844.5(COL2A1):c.491del (p.Pro164fs)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.491del (p.Pro164fs)
HGVS:
  • NC_000012.12:g.47997651del
  • NG_008072.1:g.11857del
  • NM_001844.5:c.491delMANE SELECT
  • NM_033150.3:c.284del
  • NP_001835.3:p.Pro164fs
  • NP_149162.2:p.Pro95fs
  • NC_000012.11:g.48391429del
  • NC_000012.11:g.48391434del
  • NM_001844.4:c.491del
  • NM_001844.4:c.491delC
Protein change:
P164fs
Links:
dbSNP: rs1592235241
NCBI 1000 Genomes Browser:
rs1592235241
Molecular consequence:
  • NM_001844.5:c.491del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033150.3:c.284del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Stickler syndrome type 1 (STL1)
Synonyms:
Stickler syndrome, vitreous type 1; Stickler syndrome, membranous vitreous type; Arthroophthalmopathy, hereditary progressive
Identifiers:
MONDO: MONDO:0007160; MedGen: C2020284; Orphanet: 828; OMIM: 108300

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000992554HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeqcriteria provided, single submitter
Pathogenic
(Apr 24, 2019)
de novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedresearch

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 - CSER-SouthSeq, SCV000992554.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes: PVS1,PS2, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center