17-5033041-A-G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_017986.4(SLC52A1):c.1263T>C(p.Leu421=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000253 in 1,613,604 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. L421L) has been classified as Benign.
Frequency
Consequence
NM_017986.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC52A1 | NM_017986.4 | c.1263T>C | p.Leu421= | synonymous_variant | 5/5 | ENST00000254853.10 | |
LOC105371501 | XR_002958101.2 | n.339+1372A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC52A1 | ENST00000254853.10 | c.1263T>C | p.Leu421= | synonymous_variant | 5/5 | 1 | NM_017986.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000921 AC: 14AN: 152056Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000592 AC: 148AN: 250180Hom.: 1 AF XY: 0.000873 AC XY: 118AN XY: 135220
GnomAD4 exome AF: 0.000270 AC: 394AN: 1461430Hom.: 2 Cov.: 32 AF XY: 0.000399 AC XY: 290AN XY: 726998
GnomAD4 genome ? AF: 0.0000920 AC: 14AN: 152174Hom.: 0 Cov.: 31 AF XY: 0.000121 AC XY: 9AN XY: 74404
ClinVar
Submissions by phenotype
Ariboflavinosis Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 12, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at