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NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001249437.1

Allele description [Variation Report for NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)]

NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)

Gene:
COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.1
Genomic location:
Preferred name:
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
HGVS:
  • NC_000001.11:g.103078865G>A
  • NG_008033.2:g.34632C>T
  • NM_001190709.2:c.281C>T
  • NM_001854.4:c.281C>TMANE SELECT
  • NM_080629.3:c.281C>T
  • NM_080630.4:c.281C>T
  • NP_001177638.1:p.Thr94Ile
  • NP_001845.3:p.Thr94Ile
  • NP_542196.2:p.Thr94Ile
  • NP_542197.3:p.Thr94Ile
  • NC_000001.10:g.103544421G>A
  • NC_000001.10:g.103544421G>A
  • NM_001854.3:c.281C>T
  • NR_134980.2:n.625C>T
Protein change:
T94I
Links:
dbSNP: rs1283924469
NCBI 1000 Genomes Browser:
rs1283924469
Molecular consequence:
  • NM_001190709.2:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001854.4:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080629.3:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080630.4:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134980.2:n.625C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Marshall syndrome (MRSHS)
Synonyms:
Deafness, myopia, cataract, saddle nose-Marshall type
Identifiers:
MONDO: MONDO:0007949; MedGen: C0265235; Orphanet: 560; OMIM: 154780
Name:
Stickler syndrome type 2 (STL2)
Synonyms:
STICKLER SYNDROME, TYPE II; Stickler syndrome, vitreous type 2; Stickler syndrome, beaded vitreous type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011493; MedGen: C1858084; Orphanet: 828; OMIM: 604841
Name:
Fibrochondrogenesis 1 (FBCG1)
Identifiers:
MONDO: MONDO:0009226; MedGen: C3278138; Orphanet: 2021; OMIM: 228520

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001423444GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 08-19-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024