rs1327824
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_017662.5(TRPM6):c.5084-861G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0718 in 152,292 control chromosomes in the GnomAD database, including 430 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.072 ( 430 hom., cov: 32)
Consequence
TRPM6
NM_017662.5 intron
NM_017662.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.793
Genes affected
TRPM6 (HGNC:17995): (transient receptor potential cation channel subfamily M member 6) This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.134 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRPM6 | NM_017662.5 | c.5084-861G>C | intron_variant | ENST00000360774.6 | |||
TRPM6 | NM_001177310.2 | c.5069-861G>C | intron_variant | ||||
TRPM6 | NM_001177311.2 | c.5069-861G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRPM6 | ENST00000360774.6 | c.5084-861G>C | intron_variant | 1 | NM_017662.5 | P4 | |||
TRPM6 | ENST00000361255.7 | c.5069-861G>C | intron_variant | 1 | A2 | ||||
TRPM6 | ENST00000449912.6 | c.5069-861G>C | intron_variant | 1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0718 AC: 10931AN: 152174Hom.: 432 Cov.: 32
GnomAD3 genomes
?
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0718 AC: 10935AN: 152292Hom.: 430 Cov.: 32 AF XY: 0.0704 AC XY: 5242AN XY: 74462
GnomAD4 genome
?
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10935
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32
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5242
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74462
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311
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
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