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NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Dec 30, 2023
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:
RCV000439022.15

Allele description [Variation Report for NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)]

NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)

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.4802C>A (p.Thr1601Asn)
HGVS:
  • NC_000001.11:g.102886863G>T
  • NG_008033.2:g.226634C>A
  • NM_001190709.2:c.4685C>A
  • NM_001854.4:c.4802C>AMANE SELECT
  • NM_080629.3:c.4838C>A
  • NM_080630.4:c.4454C>A
  • NP_001177638.1:p.Thr1562Asn
  • NP_001845.3:p.Thr1601Asn
  • NP_542196.2:p.Thr1613Asn
  • NP_542197.3:p.Thr1485Asn
  • NC_000001.10:g.103352419G>T
  • NM_001854.3:c.4802C>A
  • NR_134980.2:n.5162C>A
Protein change:
T1485N
Links:
dbSNP: rs143206624
NCBI 1000 Genomes Browser:
rs143206624
Molecular consequence:
  • NM_001190709.2:c.4685C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001854.4:c.4802C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080629.3:c.4838C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080630.4:c.4454C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134980.2:n.5162C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000535197GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Sep 11, 2023)
germlineclinical testing

Citation Link,

SCV002444211Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Dec 30, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot 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, SCV000535197.10

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Acke et al., 2014); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25240749)

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

From Invitae, SCV002444211.3

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

Last Updated: Jul 7, 2024