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NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 17, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:

Allele description [Variation Report for NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser)]

NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser)

COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser)
  • NC_000001.11:g.103082933T>C
  • NG_008033.2:g.30564A>G
  • NM_001190709.2:c.146A>G
  • NM_001854.4:c.146A>GMANE SELECT
  • NM_080629.3:c.146A>G
  • NM_080630.4:c.146A>G
  • NP_001177638.1:p.Asn49Ser
  • NP_001845.3:p.Asn49Ser
  • NP_542196.2:p.Asn49Ser
  • NP_542197.3:p.Asn49Ser
  • NC_000001.10:g.103548489T>C
  • NM_001854.3:c.146A>G
  • NR_134980.2:n.490A>G
Protein change:
dbSNP: rs145159429
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001190709.2:c.146A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001854.4:c.146A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080629.3:c.146A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080630.4:c.146A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134980.2:n.490A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Inborn genetic diseases
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV003598280Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 17, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003598280.2

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


The c.146A>G (p.N49S) alteration is located in exon 2 (coding exon 2) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 146, causing the asparagine (N) at amino acid position 49 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Jul 15, 2024