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NM_001114753.3(ENG):c.1060C>T (p.Leu354=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Aug 24, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000137210.6
Variation ID:
137210
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.1060C>T (p.Leu354=)

Allele ID
140913
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127824378 (GRCh38) GRCh38 UCSC
9: 130586657 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130586657G>A
NC_000009.12:g.127824378G>A
NM_001114753.3:c.1060C>T MANE Select NP_001108225.1:p.Leu354= synonymous
... more HGVS
Protein change
-
Other names
p.L354L:CTG>TTG
Canonical SPDI
NC_000009.12:127824377:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.02696 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.01794
The Genome Aggregation Database (gnomAD) 0.03487
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03990
1000 Genomes Project 0.02696
Trans-Omics for Precision Medicine (TOPMed) 0.03554
The Genome Aggregation Database (gnomAD), exomes 0.01613
Links
ClinGen: CA290735
dbSNP: rs36092484
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Mar 28, 2014 RCV000124891.6
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 1, 2020 RCV000361084.5
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001081891.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
589 879

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302330.1
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: SCV000477334.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Mar 28, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168331.12
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)
Benign
(Feb 21, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000269080.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Leu354Leu in exon 8 of ENG: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue … (more)
Benign
(Sep 01, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000603447.4
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000557858.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808491.1
Submitted: (Aug 24, 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 rs36092484...

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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 Aug 25, 2021