U.S. flag

An official website of the United States government

NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His) 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:
RCV002249377.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)]

NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)

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.4171T>C (p.Tyr1391His)
HGVS:
  • NC_000012.12:g.47974235A>G
  • NG_008072.1:g.35268T>C
  • NM_001844.5:c.4171T>CMANE SELECT
  • NM_033150.3:c.3964T>C
  • NP_001835.3:p.Tyr1391His
  • NP_149162.2:p.Tyr1322His
  • NC_000012.11:g.48368018A>G
Protein change:
Y1322H
Links:
dbSNP: rs2136505595
NCBI 1000 Genomes Browser:
rs2136505595
Molecular consequence:
  • NM_001844.5:c.4171T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.3964T>C - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002518742Mendelics
criteria provided, single submitter

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

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV002518742.1

#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: Dec 24, 2023