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NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000286557.4
Variation ID:
286557
Description:
single nucleotide variant
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NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu)

Allele ID
270794
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.3
Genomic location
1: 162770390 (GRCh38) GRCh38 UCSC
1: 162740180 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1390t1:c.1382C>T LRG_1390p1:p.Ser461Leu
LRG_1390:g.144178C>T
NC_000001.10:g.162740180C>T
... more HGVS
Protein change
S461L
Other names
-
Canonical SPDI
NC_000001.11:162770389:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (T)

Allele frequency
1000 Genomes Project 0.00180
Trans-Omics for Precision Medicine (TOPMed) 0.00263
The Genome Aggregation Database (gnomAD) 0.00268
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00292
Links
ClinGen: CA1217503
dbSNP: rs140710321
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 Dec 31, 2019 RCV000514701.4
Likely benign 1 criteria provided, single submitter Mar 4, 2016 RCV000403370.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DDR2 - - GRCh38
GRCh37
168 184

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 04, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000340041.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610291.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001121038.2
Submitted: (Jan 29, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DDR2 - - - -

Text-mined citations for rs140710321...

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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 Sep 29, 2021