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NM_000118.3(ENG):c.1452C>T (p.Ser484=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 18, 2020
Accession:
VCV000255142.5
Variation ID:
255142
Description:
single nucleotide variant
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NM_000118.3(ENG):c.1452C>T (p.Ser484=)

Allele ID
253309
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127818354 (GRCh38) GRCh38 UCSC
9: 130580633 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130580633G>A
NC_000009.12:g.127818354G>A
NM_000118.3:c.1452C>T NP_000109.1:p.Ser484= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:127818353:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00519 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00112
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00361
Exome Aggregation Consortium (ExAC) 0.00124
1000 Genomes Project 0.00519
Trans-Omics for Precision Medicine (TOPMed) 0.00293
The Genome Aggregation Database (gnomAD) 0.00271
Links
ClinGen: CA5252755
dbSNP: rs115450389
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 Apr 13, 2019 RCV000382905.4
Likely benign 1 criteria provided, single submitter - RCV000251318.3
Benign 1 criteria provided, single submitter Nov 18, 2020 RCV000858443.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
589 879
LOC102723566 - - - GRCh38 - 266

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302335.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary Hemorrhagic Telangiectasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000477317.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Apr 13, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000603465.2
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000557847.6
Submitted: (Jan 07, 2021)
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 rs115450389...

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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 Jun 23, 2021