rs71369435
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001099646.3(SLC47A2):c.1671C>T(p.Leu557=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000432 in 1,613,126 control chromosomes in the GnomAD database, including 1 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
NM_001099646.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC47A2 | NM_001099646.3 | c.1671C>T | p.Leu557= | synonymous_variant | 17/17 | ENST00000433844.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC47A2 | ENST00000433844.4 | c.1671C>T | p.Leu557= | synonymous_variant | 17/17 | 5 | NM_001099646.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000171 AC: 26AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000103 AC: 26AN: 251264Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135862
GnomAD4 exome AF: 0.000459 AC: 671AN: 1460926Hom.: 1 Cov.: 30 AF XY: 0.000431 AC XY: 313AN XY: 726784
GnomAD4 genome ? AF: 0.000171 AC: 26AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at