chr17-6686176-A-G
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_177550.5(SLC13A5):c.*31T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00594 in 1,613,602 control chromosomes in the GnomAD database, including 429 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.030 ( 213 hom., cov: 32)
Exomes 𝑓: 0.0035 ( 216 hom. )
Consequence
SLC13A5
NM_177550.5 3_prime_UTR
NM_177550.5 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.16
Genes affected
SLC13A5 (HGNC:23089): (solute carrier family 13 member 5) This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP6
Variant 17-6686176-A-G is Benign according to our data. Variant chr17-6686176-A-G is described in ClinVar as [Benign]. Clinvar id is 1230912.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0983 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC13A5 | NM_177550.5 | c.*31T>C | 3_prime_UTR_variant | 12/12 | ENST00000433363.7 | ||
SLC13A5 | NM_001143838.3 | c.*31T>C | 3_prime_UTR_variant | 11/11 | |||
SLC13A5 | NM_001284509.2 | c.*31T>C | 3_prime_UTR_variant | 12/12 | |||
SLC13A5 | NM_001284510.2 | c.*31T>C | 3_prime_UTR_variant | 11/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC13A5 | ENST00000433363.7 | c.*31T>C | 3_prime_UTR_variant | 12/12 | 1 | NM_177550.5 | P1 | ||
ENST00000634558.1 | n.511-3700A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0296 AC: 4501AN: 152072Hom.: 211 Cov.: 32
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GnomAD3 exomes AF: 0.00840 AC: 2110AN: 251214Hom.: 70 AF XY: 0.00619 AC XY: 840AN XY: 135764
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GnomAD4 exome AF: 0.00348 AC: 5083AN: 1461412Hom.: 216 Cov.: 31 AF XY: 0.00295 AC XY: 2148AN XY: 727012
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GnomAD4 genome AF: 0.0296 AC: 4505AN: 152190Hom.: 213 Cov.: 32 AF XY: 0.0287 AC XY: 2137AN XY: 74430
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 25, 2018 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at