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NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Apr 1, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV001587283.14

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]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001815589GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Dec 30, 2022)
germlineclinical testing

Citation Link,

SCV002225438Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Dec 1, 2023)
germlineclinical testing

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

SCV005041098CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Uncertain significance
(Apr 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From GeneDx, SCV001815589.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

From Invitae, SCV002225438.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV005041098.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

COL11A1: PM2, BP4

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

Last Updated: Jul 7, 2024