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NM_001199799.2(ILDR1):c.726G>A (p.Ala242=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000044143.5
Variation ID:
44143
Description:
single nucleotide variant
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NM_001199799.2(ILDR1):c.726G>A (p.Ala242=)

Allele ID
53311
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q13.33
Genomic location
3: 121994234 (GRCh38) GRCh38 UCSC
3: 121713081 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.121713081C>T
NC_000003.12:g.121994234C>T
NG_031870.1:g.33047G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:121994233:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01058 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00106
The Genome Aggregation Database (gnomAD), exomes 0.00153
The Genome Aggregation Database (gnomAD) 0.00876
Trans-Omics for Precision Medicine (TOPMed) 0.00795
1000 Genomes Project 0.01058
Links
ClinGen: CA133663
dbSNP: rs114464909
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000958700.4
Benign 1 criteria provided, single submitter May 7, 2012 RCV000037119.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ILDR1 - - GRCh38
GRCh37
131 149

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 29, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000723700.2
Submitted: (Sep 23, 2021)
Evidence details
Benign
(Jul 16, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144237.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001105572.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(May 07, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060776.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
"Ala242Ala in Exon 06 of ILDR1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, … (more)

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 rs114464909...

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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 25, 2021