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NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Likely pathogenic(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Apr 2, 2018)
Last evaluated:
Aug 4, 2017
Accession:
VCV000216909.1
Variation ID:
216909
Description:
single nucleotide variant
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NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu)

Allele ID
213575
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.3
Genomic location
7: 94426011 (GRCh38) GRCh38 UCSC
7: 94055323 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.94055323C>T
NC_000007.14:g.94426011C>T
NM_000089.3:c.2957C>T NP_000080.2:p.Pro986Leu missense
... more HGVS
Protein change
P986L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00012
Links
dbSNP: rs768171831
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 16, 2013 RCV000199225.1
Likely benign 1 criteria provided, single submitter Aug 4, 2017 RCV000631538.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL1A2 No evidence available No evidence available GRCh38
GRCh37
453 470

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 04, 2017)
criteria provided, single submitter
Method: clinical testing
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type
Allele origin: germline
Invitae
Accession: SCV000752620.1
Submitted: (Apr 02, 2018)
Evidence details
Likely pathogenic
(Apr 16, 2013)
criteria provided, single submitter
Method: clinical testing
Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
(Autosomal dominant inheritance)
Allele origin: germline
UCLA Clinical Genomics Center, UCLA
Study: CES
Accession: SCV000255349.2
Submitted: (May 14, 2015)
Evidence details

Citations for this variant

Title Author Journal Year Link
Clinical exome sequencing for genetic identification of rare Mendelian disorders. Lee H JAMA 2014 PMID: 25326637

Record last updated Mar 29, 2019