chr9-137231698-A-T
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Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001177316.2(SLC34A3):c.-5A>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00177 in 1,612,618 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Genomes: 𝑓 0.0017 ( 0 hom., cov: 33)
Exomes 𝑓: 0.0018 ( 4 hom. )
Consequence
SLC34A3
NM_001177316.2 5_prime_UTR
NM_001177316.2 5_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.651
Genes affected
SLC34A3 (HGNC:20305): (solute carrier family 34 member 3) This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -9 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.67).
BP6
Variant 9-137231698-A-T is Benign according to our data. Variant chr9-137231698-A-T is described in ClinVar as [Likely_benign]. Clinvar id is 3041974.Status of the report is no_assertion_criteria_provided, 0 stars.
BS2
High Homozygotes in GnomAdExome4 at 4 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC34A3 | NM_001177316.2 | c.-5A>T | 5_prime_UTR_variant | 2/13 | ENST00000673835.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC34A3 | ENST00000673835.1 | c.-5A>T | 5_prime_UTR_variant | 2/13 | NM_001177316.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00169 AC: 257AN: 151882Hom.: 0 Cov.: 33
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GnomAD3 exomes AF: 0.00189 AC: 473AN: 250924Hom.: 2 AF XY: 0.00180 AC XY: 244AN XY: 135734
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GnomAD4 exome AF: 0.00178 AC: 2593AN: 1460616Hom.: 4 Cov.: 32 AF XY: 0.00173 AC XY: 1257AN XY: 726606
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GnomAD4 genome AF: 0.00168 AC: 256AN: 152002Hom.: 0 Cov.: 33 AF XY: 0.00201 AC XY: 149AN XY: 74300
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
SLC34A3-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 05, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
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BayesDel_noAF
Benign
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DANN
Benign
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at