rs2235800
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001282195.2(SLC25A14):c.719+110T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.436 in 1,115,878 control chromosomes in the GnomAD database, including 73,788 homozygotes. There are 149,417 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 | UniProt |
---|---|---|---|---|---|---|---|
SLC25A14 | NM_001282195.2 | c.719+110T>A | intron_variant | ENST00000545805.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC25A14 | ENST00000545805.6 | c.719+110T>A | intron_variant | 5 | NM_001282195.2 |
Frequencies
GnomAD3 genomes ? AF: 0.410 AC: 45286AN: 110588Hom.: 6773 Cov.: 22 AF XY: 0.392 AC XY: 12866AN XY: 32856
GnomAD4 exome AF: 0.439 AC: 441241AN: 1005236Hom.: 67019 Cov.: 22 AF XY: 0.445 AC XY: 136537AN XY: 306706
GnomAD4 genome ? AF: 0.409 AC: 45274AN: 110642Hom.: 6769 Cov.: 22 AF XY: 0.391 AC XY: 12880AN XY: 32920
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at