rs34984157
Your query was ambiguous. Multiple possible variants found:
- chr12-104866587-TAAAAAAAAA-T
- chr12-104866587-TAAAAAAAAA-TAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAAAAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAAAAAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAAAAAAAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAAAAAAAAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAA
- chr12-104866587-TAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001352171.3(SLC41A2):c.1028-17_1028-9delTTTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000299 in 1,340,024 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000072 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000025 ( 0 hom. )
Consequence
SLC41A2
NM_001352171.3 intron
NM_001352171.3 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.01
Genes affected
SLC41A2 (HGNC:31045): (solute carrier family 41 member 2) Predicted to enable inorganic cation transmembrane transporter activity. Predicted to be involved in magnesium ion transmembrane transport. Predicted to act upstream of or within metal ion transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| SLC41A2 | NM_001352171.3 | c.1028-17_1028-9delTTTTTTTTT | intron_variant | Intron 6 of 10 | ENST00000258538.8 | NP_001339100.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| SLC41A2 | ENST00000258538.8 | c.1028-17_1028-9delTTTTTTTTT | intron_variant | Intron 6 of 10 | 1 | NM_001352171.3 | ENSP00000258538.3 | |||
| ENSG00000286410 | ENST00000671114.1 | n.71-3574_71-3566delAAAAAAAAA | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes 0.00000723 AC: 1AN: 138224Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.00000250 AC: 3AN: 1201800Hom.: 0 AF XY: 0.00000335 AC XY: 2AN XY: 597884
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GnomAD4 genome 0.00000723 AC: 1AN: 138224Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 66602
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at