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NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp) AND Stickler syndrome type 1

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:
RCV002248504.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)]

NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)
HGVS:
  • NC_000012.12:g.47980562C>A
  • NG_008072.1:g.28941G>T
  • NM_001844.5:c.2617G>TMANE SELECT
  • NM_033150.3:c.2410G>T
  • NP_001835.3:p.Gly873Trp
  • NP_149162.2:p.Gly804Trp
  • NC_000012.11:g.48374345C>A
  • NM_001844.4:c.2617G>T
Protein change:
G804W
Links:
dbSNP: rs886041713
NCBI 1000 Genomes Browser:
rs886041713
Molecular consequence:
  • NM_001844.5:c.2617G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002518744Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)
Pathogenic
(May 4, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV002518744.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 28, 2022