NM_001636.4:c.225T>G
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001636.4(SLC25A6):āc.225T>Gā(p.Leu75Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000131 in 1,614,122 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 83 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001636.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC25A6 | ENST00000381401.11 | c.225T>G | p.Leu75Leu | synonymous_variant | Exon 2 of 4 | 1 | NM_001636.4 | ENSP00000370808.5 | ||
SLC25A6 | ENST00000475167.6 | n.418T>G | non_coding_transcript_exon_variant | Exon 3 of 4 | 2 | |||||
SLC25A6 | ENST00000484026.6 | n.406T>G | non_coding_transcript_exon_variant | Exon 3 of 4 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000697 AC: 106AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.000592 AC XY: 44AN XY: 74308
GnomAD3 exomes AF: 0.000223 AC: 56AN: 251490Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135920
GnomAD4 exome AF: 0.0000718 AC: 105AN: 1461882Hom.: 0 Cov.: 38 AF XY: 0.0000523 AC XY: 38AN XY: 727242
GnomAD4 genome AF: 0.000696 AC: 106AN: 152240Hom.: 0 Cov.: 32 AF XY: 0.000605 AC XY: 45AN XY: 74436
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at