rs114464909
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BS1BS2
The NM_001199799.2(ILDR1):c.726G>A(p.Ala242=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00159 in 1,536,090 control chromosomes in the GnomAD database, including 36 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.0077 ( 18 hom., cov: 33)
Exomes 𝑓: 0.00092 ( 18 hom. )
Consequence
ILDR1
NM_001199799.2 synonymous
NM_001199799.2 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.333
Genes affected
ILDR1 (HGNC:28741): (immunoglobulin like domain containing receptor 1) This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -19 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.28).
BP6
?
Variant 3-121994234-C-T is Benign according to our data. Variant chr3-121994234-C-T is described in ClinVar as [Benign]. Clinvar id is 44143.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BP7
?
Synonymous conserved (PhyloP=0.333 with no splicing effect.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00768 (1169/152276) while in subpopulation AFR AF= 0.0262 (1087/41554). AF 95% confidence interval is 0.0249. There are 18 homozygotes in gnomad4. There are 578 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 18 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ILDR1 | NM_001199799.2 | c.726G>A | p.Ala242= | synonymous_variant | 6/8 | ENST00000344209.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ILDR1 | ENST00000344209.10 | c.726G>A | p.Ala242= | synonymous_variant | 6/8 | 1 | NM_001199799.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00767 AC: 1167AN: 152158Hom.: 18 Cov.: 33
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GnomAD3 exomes AF: 0.00153 AC: 209AN: 137040Hom.: 4 AF XY: 0.00129 AC XY: 96AN XY: 74508
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GnomAD4 exome AF: 0.000919 AC: 1272AN: 1383814Hom.: 18 Cov.: 32 AF XY: 0.000817 AC XY: 558AN XY: 682852
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GnomAD4 genome ? AF: 0.00768 AC: 1169AN: 152276Hom.: 18 Cov.: 33 AF XY: 0.00776 AC XY: 578AN XY: 74446
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ClinVar
Significance: Benign
Submissions summary: Benign:4
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 02, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Jul 16, 2019 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 29, 2019 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | May 07, 2012 | 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, is not located withi n the splice consensus sequence, and has been identified in 5.1% (6/118) of chro mosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/pro jects/SNP; rs114464909). - |
Computational scores
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at