rs471976
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_135556.1(SLC7A14-AS1):n.766+1453C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.277 in 151,998 control chromosomes in the GnomAD database, including 6,331 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
Consequence
NR_135556.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC7A14-AS1 | NR_135556.1 | n.766+1453C>T | intron_variant, non_coding_transcript_variant | ||||
LOC124906302 | XR_007096159.1 | n.268+2535G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC7A14-AS1 | ENST00000644993.1 | n.293+22954C>T | intron_variant, non_coding_transcript_variant | ||||||
ENST00000658869.1 | n.136+4778G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.277 AC: 42102AN: 151880Hom.: 6326 Cov.: 32
GnomAD4 genome ? AF: 0.277 AC: 42125AN: 151998Hom.: 6331 Cov.: 32 AF XY: 0.284 AC XY: 21118AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at