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NM_000088.3(COL1A1):c.1638C>T (p.Ser546=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 30, 2020)
Last evaluated:
May 11, 2020
Accession:
VCV000511070.4
Variation ID:
511070
Description:
single nucleotide variant
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NM_000088.3(COL1A1):c.1638C>T (p.Ser546=)

Allele ID
506226
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.33
Genomic location
17: 50194160 (GRCh38) GRCh38 UCSC
17: 48271521 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.50194160G>A
NC_000017.10:g.48271521G>A
NM_000088.3:c.1638C>T NP_000079.2:p.Ser546= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:50194159:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00008
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00028
1000 Genomes Project 0.00060
Links
ClinGen: CA8645167
dbSNP: rs146450504
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 11, 2020 RCV000603957.2
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV000953856.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL1A1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1319 1332

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 25, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000721493.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Osteogenesis imperfecta type I
Allele origin: germline
Invitae
Accession: SCV001100450.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(May 11, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476180.1
Submitted: (Dec 30, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs146450504...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021