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NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro) AND COL11A1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 26, 2024
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:
RCV004531243.2

Allele description [Variation Report for NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)]

NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)

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.4193A>C (p.Gln1398Pro)
HGVS:
  • NC_000001.11:g.102898721T>G
  • NG_008033.2:g.214776A>C
  • NM_001190709.2:c.4076A>C
  • NM_001854.4:c.4193A>CMANE SELECT
  • NM_080629.3:c.4229A>C
  • NM_080630.4:c.3845A>C
  • NP_001177638.1:p.Gln1359Pro
  • NP_001845.3:p.Gln1398Pro
  • NP_542196.2:p.Gln1410Pro
  • NP_542197.3:p.Gln1282Pro
  • NC_000001.10:g.103364277T>G
  • NM_001854.3:c.4193A>C
  • NR_134980.2:n.4553A>C
Protein change:
Q1282P
Links:
dbSNP: rs775587076
NCBI 1000 Genomes Browser:
rs775587076
Molecular consequence:
  • NM_001190709.2:c.4076A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001854.4:c.4193A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080629.3:c.4229A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080630.4:c.3845A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134980.2:n.4553A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
COL11A1-related disorder
Synonyms:
COL11A1-related condition; COL11A1-related disorders
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004710435PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Feb 26, 2024)
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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004710435.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The COL11A1 c.4193A>C variant is predicted to result in the amino acid substitution p.Gln1398Pro. This variant was reported in an individual with cleft lip and cleft palate (DÄ…browska et al 2022. PubMed ID: 35778651). This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Jul 15, 2024