rs741811
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001164278.2(SLC37A4):c.625+19C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.121 in 1,613,258 control chromosomes in the GnomAD database, including 12,506 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001164278.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC37A4 | NM_001164278.2 | c.625+19C>T | intron_variant | Intron 6 of 11 | NP_001157750.1 | |||
SLC37A4 | NM_001164277.2 | c.625+19C>T | intron_variant | Intron 6 of 10 | NP_001157749.1 | |||
SLC37A4 | NM_001164280.2 | c.625+19C>T | intron_variant | Intron 4 of 8 | NP_001157752.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.110 AC: 16741AN: 152140Hom.: 1038 Cov.: 33
GnomAD3 exomes AF: 0.106 AC: 26270AN: 248416Hom.: 1607 AF XY: 0.108 AC XY: 14581AN XY: 134814
GnomAD4 exome AF: 0.123 AC: 179252AN: 1461000Hom.: 11469 Cov.: 32 AF XY: 0.122 AC XY: 88917AN XY: 726784
GnomAD4 genome AF: 0.110 AC: 16743AN: 152258Hom.: 1037 Cov.: 33 AF XY: 0.108 AC XY: 8038AN XY: 74438
ClinVar
Submissions by phenotype
not specified Benign:3
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Glucose-6-phosphate transport defect Benign:2
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not provided Benign:1
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Phosphate transport defect Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at