chr4-71217657-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001098484.3(SLC4A4):c.-1-18919C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.628 in 152,174 control chromosomes in the GnomAD database, including 37,214 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.63 ( 37214 hom., cov: 33)
Consequence
SLC4A4
NM_001098484.3 intron
NM_001098484.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.547
Genes affected
SLC4A4 (HGNC:11030): (solute carrier family 4 member 4) This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.73).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.856 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC4A4 | NM_001098484.3 | c.-1-18919C>T | intron_variant | ENST00000264485.11 | |||
SLC4A4 | NM_001134742.2 | c.-1-18919C>T | intron_variant | ||||
SLC4A4 | XM_024454268.2 | c.15-18919C>T | intron_variant | ||||
SLC4A4 | XM_024454269.2 | c.15-18919C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC4A4 | ENST00000264485.11 | c.-1-18919C>T | intron_variant | 1 | NM_001098484.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.629 AC: 95616AN: 152056Hom.: 37212 Cov.: 33
GnomAD3 genomes
?
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33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.628 AC: 95619AN: 152174Hom.: 37214 Cov.: 33 AF XY: 0.628 AC XY: 46743AN XY: 74408
GnomAD4 genome
?
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95619
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152174
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33
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46743
AN XY:
74408
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1675
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at