NM_001844.5(COL2A1):c.2594del (p.Pro865fs) AND Stickler syndrome type 1

Clinical significance:Likely pathogenic (Last evaluated: Aug 9, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001564051.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.2594del (p.Pro865fs)]

NM_001844.5(COL2A1):c.2594del (p.Pro865fs)

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.2594del (p.Pro865fs)
HGVS:
  • NC_000012.12:g.47980586del
  • NG_008072.1:g.28918del
  • NM_001844.5:c.2594delMANE SELECT
  • NM_033150.3:c.2387del
  • NP_001835.3:p.Pro865fs
  • NP_149162.2:p.Pro796fs
  • NC_000012.11:g.48374369del
  • NM_001844.5:c.2594delCMANE SELECT
Protein change:
P796fs
Molecular consequence:
  • NM_001844.5:c.2594del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033150.3:c.2387del - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001787146HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeqcriteria provided, single submitter
Likely pathogenic
(Aug 9, 2021)
maternalresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV001787146.1

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

Description

ACMG codes: PVS1; PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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