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NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001825009.3

Allele description [Variation Report for NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)]

NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)

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.2513G>A (p.Gly838Glu)
HGVS:
  • NC_000001.11:g.102984181C>T
  • NG_008033.2:g.129316G>A
  • NM_001190709.2:c.2396G>A
  • NM_001854.4:c.2513G>AMANE SELECT
  • NM_080629.3:c.2549G>A
  • NM_080630.4:c.2165G>A
  • NP_001177638.1:p.Gly799Glu
  • NP_001845.3:p.Gly838Glu
  • NP_542196.2:p.Gly850Glu
  • NP_542197.3:p.Gly722Glu
  • NC_000001.10:g.103449737C>T
  • NM_001854.3:c.2513G>A
  • NR_134980.2:n.2857G>A
Protein change:
G722E
Links:
dbSNP: rs372419698
Molecular consequence:
  • NM_001190709.2:c.2396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001854.4:c.2513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080629.3:c.2549G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080630.4:c.2165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134980.2:n.2857G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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; See all synonyms [MedGen]
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
SCV002075112GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002075112.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Likely pathogenic and reported on 06-17-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Apr 12, 2026

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