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NM_080680.3(COL11A2):c.920T>A (p.Leu307His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 25, 2022
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:
RCV002558350.1

Allele description [Variation Report for NM_080680.3(COL11A2):c.920T>A (p.Leu307His)]

NM_080680.3(COL11A2):c.920T>A (p.Leu307His)

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.920T>A (p.Leu307His)
HGVS:
  • NC_000006.12:g.33185011A>T
  • NG_011589.1:g.12458T>A
  • NM_080679.3:c.798+1616T>A
  • NM_080680.3:c.920T>AMANE SELECT
  • NM_080681.3:c.842T>A
  • NP_542411.2:p.Leu307His
  • NP_542412.2:p.Leu281His
  • NC_000006.11:g.33152788A>T
  • NM_080680.2:c.920T>A
Protein change:
L281H
Links:
dbSNP: rs1772205515
NCBI 1000 Genomes Browser:
rs1772205515
Molecular consequence:
  • NM_080679.3:c.798+1616T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080680.3:c.920T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080681.3:c.842T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003655143Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Oct 25, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003655143.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.920T>A (p.L307H) alteration is located in exon 7 (coding exon 7) of the COL11A2 gene. This alteration results from a T to A substitution at nucleotide position 920, causing the leucine (L) at amino acid position 307 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023