chr5-474900-G-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_004174.4(SLC9A3):c.2484C>G(p.Leu828=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000555 in 1,442,170 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 0.0000055 ( 0 hom. )
Consequence
SLC9A3
NM_004174.4 synonymous
NM_004174.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.302
Genes affected
SLC9A3 (HGNC:11073): (solute carrier family 9 member A3) The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
?
Variant 5-474900-G-C is Benign according to our data. Variant chr5-474900-G-C is described in ClinVar as [Likely_benign]. Clinvar id is 1545696.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
?
Synonymous conserved (PhyloP=0.302 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC9A3 | NM_004174.4 | c.2484C>G | p.Leu828= | synonymous_variant | 16/17 | ENST00000264938.8 | |
SLC9A3-AS1 | NR_125375.1 | n.165-237G>C | intron_variant, non_coding_transcript_variant | ||||
SLC9A3 | NM_001284351.3 | c.2457C>G | p.Leu819= | synonymous_variant | 16/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC9A3 | ENST00000264938.8 | c.2484C>G | p.Leu828= | synonymous_variant | 16/17 | 1 | NM_004174.4 | P2 | |
SLC9A3-AS1 | ENST00000607286.5 | n.165-237G>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
GnomAD3 exomes AF: 0.00000481 AC: 1AN: 207780Hom.: 0 AF XY: 0.00000879 AC XY: 1AN XY: 113750
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GnomAD4 exome AF: 0.00000555 AC: 8AN: 1442170Hom.: 0 Cov.: 45 AF XY: 0.00000838 AC XY: 6AN XY: 715876
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GnomAD4 genome ? Cov.: 32
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?
Cov.:
32
ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 19, 2024 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
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