chr9-137231698-A-T

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

Scores

2

Clinical Significance

Likely benign no assertion criteria provided B:1

Conservation

PhyloP100: -0.651
Variant links:
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
SLC34A3NM_001177316.2 linkuse as main transcriptc.-5A>T 5_prime_UTR_variant 2/13 ENST00000673835.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
SLC34A3ENST00000673835.1 linkuse as main transcriptc.-5A>T 5_prime_UTR_variant 2/13 NM_001177316.2 P1

Frequencies

GnomAD3 genomes
AF:
0.00169
AC:
257
AN:
151882
Hom.:
0
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.000411
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000459
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.000415
Gnomad FIN
AF:
0.00849
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00205
Gnomad OTH
AF:
0.000962
GnomAD3 exomes
AF:
0.00189
AC:
473
AN:
250924
Hom.:
2
AF XY:
0.00180
AC XY:
244
AN XY:
135734
show subpopulations
Gnomad AFR exome
AF:
0.000432
Gnomad AMR exome
AF:
0.000202
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.000588
Gnomad FIN exome
AF:
0.00672
Gnomad NFE exome
AF:
0.00258
Gnomad OTH exome
AF:
0.000653
GnomAD4 exome
AF:
0.00178
AC:
2593
AN:
1460616
Hom.:
4
Cov.:
32
AF XY:
0.00173
AC XY:
1257
AN XY:
726606
show subpopulations
Gnomad4 AFR exome
AF:
0.000299
Gnomad4 AMR exome
AF:
0.000358
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.000638
Gnomad4 FIN exome
AF:
0.00640
Gnomad4 NFE exome
AF:
0.00188
Gnomad4 OTH exome
AF:
0.00141
GnomAD4 genome
AF:
0.00168
AC:
256
AN:
152002
Hom.:
0
Cov.:
33
AF XY:
0.00201
AC XY:
149
AN XY:
74300
show subpopulations
Gnomad4 AFR
AF:
0.000410
Gnomad4 AMR
AF:
0.000393
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.000416
Gnomad4 FIN
AF:
0.00849
Gnomad4 NFE
AF:
0.00205
Gnomad4 OTH
AF:
0.000952
Alfa
AF:
0.00150
Hom.:
0
Bravo
AF:
0.000986
EpiCase
AF:
0.00147
EpiControl
AF:
0.00130

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: no assertion criteria provided
LINK: link

Submissions by phenotype

SLC34A3-related disorder Benign:1
Likely benign, no assertion criteria providedclinical testingPreventionGenetics, part of Exact SciencesMar 05, 2019This 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

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.67
CADD
Benign
12
DANN
Benign
0.93

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.070
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs199975477; hg19: chr9-140126150; API