rs3736032
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_016612.4(SLC25A37):c.287G>A(p.Arg96Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.082 in 1,605,314 control chromosomes in the GnomAD database, including 6,617 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_016612.4 missense
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 |
---|---|---|---|---|---|---|---|
SLC25A37 | NM_016612.4 | c.287G>A | p.Arg96Gln | missense_variant | 2/4 | ENST00000519973.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC25A37 | ENST00000519973.6 | c.287G>A | p.Arg96Gln | missense_variant | 2/4 | 1 | NM_016612.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.113 AC: 17163AN: 152066Hom.: 1283 Cov.: 33
GnomAD3 exomes AF: 0.0889 AC: 21377AN: 240552Hom.: 1235 AF XY: 0.0886 AC XY: 11600AN XY: 130852
GnomAD4 exome AF: 0.0787 AC: 114427AN: 1453130Hom.: 5330 Cov.: 51 AF XY: 0.0794 AC XY: 57361AN XY: 722732
GnomAD4 genome ? AF: 0.113 AC: 17178AN: 152184Hom.: 1287 Cov.: 33 AF XY: 0.111 AC XY: 8269AN XY: 74416
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at