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NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 12, 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:
RCV005031715.1

Allele description [Variation Report for NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)]

NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)

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.965C>T (p.Pro322Leu)
HGVS:
  • NC_000001.11:g.103025546G>A
  • NG_008033.2:g.87951C>T
  • NM_001190709.2:c.848C>T
  • NM_001854.4:c.965C>TMANE SELECT
  • NM_080629.3:c.1001C>T
  • NM_080630.4:c.897+670C>T
  • NP_001177638.1:p.Pro283Leu
  • NP_001845.3:p.Pro322Leu
  • NP_542196.2:p.Pro334Leu
  • NC_000001.10:g.103491102G>A
  • NM_001854.3:c.965C>T
  • NR_134980.2:n.1309C>T
Protein change:
P283L
Links:
dbSNP: rs183130583
NCBI 1000 Genomes Browser:
rs183130583
Molecular consequence:
  • NM_080630.4:c.897+670C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001190709.2:c.848C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001854.4:c.965C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080629.3:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134980.2:n.1309C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Intervertebral disc disorder (IDD)
Synonyms:
INTERVERTEBRAL DISC DISEASE; Lumbar disk degenerative disorder
Identifiers:
MONDO: MONDO:0044339; MedGen: C0158252; OMIM: 603932
Name:
Marshall syndrome (MRSHS)
Identifiers:
MONDO: MONDO:0007949; MedGen: C0265235; Orphanet: 560; OMIM: 154780
Name:
Stickler syndrome type 2 (STL2)
Synonyms:
STICKLER SYNDROME, TYPE II; STICKLER SYNDROME, BEADED VITREOUS TYPE; STICKLER SYNDROME, VITREOUS TYPE 2
Identifiers:
MONDO: MONDO:0011493; MedGen: C1858084; Orphanet: 828; OMIM: 604841
Name:
Fibrochondrogenesis 1 (FBCG1)
Identifiers:
MONDO: MONDO:0009226; MedGen: C3278138; Orphanet: 2021; OMIM: 228520
Name:
Hearing loss, autosomal dominant 37
Synonyms:
DEAFNESS, AUTOSOMAL DOMINANT 37
Identifiers:
MONDO: MONDO:0032802; MedGen: C4760307; OMIM: 618533

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005671797Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 12, 2024) 		germlineclinical testing

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

Help

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 Fulgent Genetics, Fulgent Genetics, SCV005671797.1

#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: May 16, 2025