rs5977248
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001282195.2(SLC25A14):c.855+1837G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.401 in 110,283 control chromosomes in the GnomAD database, including 6,535 homozygotes. There are 12,509 hemizygotes in GnomAD. 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
NM_001282195.2 intron
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC25A14 | NM_001282195.2 | c.855+1837G>T | intron_variant | ENST00000545805.6 | NP_001269124.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC25A14 | ENST00000545805.6 | c.855+1837G>T | intron_variant | 5 | NM_001282195.2 | ENSP00000444642 |
Frequencies
GnomAD3 genomes AF: 0.402 AC: 44258AN: 110226Hom.: 6539 Cov.: 22 AF XY: 0.384 AC XY: 12495AN XY: 32554
GnomAD4 genome AF: 0.401 AC: 44246AN: 110283Hom.: 6535 Cov.: 22 AF XY: 0.383 AC XY: 12509AN XY: 32621
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at