rs5818648
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_003486.7(SLC7A5):c.*1306_*1307insCC variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00025 ( 0 hom., cov: 0)
Exomes 𝑓: 0.023 ( 0 hom. )
Consequence
SLC7A5
NM_003486.7 3_prime_UTR
NM_003486.7 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.539
Genes affected
SLC7A5 (HGNC:11063): (solute carrier family 7 member 5) Enables L-leucine transmembrane transporter activity; L-tryptophan transmembrane transporter activity; and thyroid hormone transmembrane transporter activity. Involved in carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Is integral component of membrane. Part of amino acid transport complex; apical plasma membrane; and microvillus 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC7A5 | NM_003486.7 | c.*1306_*1307insCC | 3_prime_UTR_variant | 10/10 | ENST00000261622.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC7A5 | ENST00000261622.5 | c.*1306_*1307insCC | 3_prime_UTR_variant | 10/10 | 1 | NM_003486.7 | P1 | ||
SLC7A5 | ENST00000565644.5 | c.*1306_*1307insCC | 3_prime_UTR_variant | 10/10 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.000250 AC: 38AN: 151756Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.0227 AC: 1AN: 44Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 22
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GnomAD4 genome ? AF: 0.000250 AC: 38AN: 151874Hom.: 0 Cov.: 0 AF XY: 0.000256 AC XY: 19AN XY: 74228
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ClinVar
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at