rs11869174
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The NM_006987.4(RPH3AL):c.-213+3805A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.211 in 152,146 control chromosomes in the GnomAD database, including 3,639 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 0.21 ( 3638 hom., cov: 32)
Exomes 𝑓: 0.40 ( 1 hom. )
Consequence
RPH3AL
NM_006987.4 intron
NM_006987.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0810
Genes affected
RPH3AL (HGNC:10296): (rabphilin 3A like (without C2 domains)) The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.45).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.255 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPH3AL | NM_006987.4 | c.-213+3805A>G | intron_variant | ENST00000331302.12 | NP_008918.1 | |||
RPH3AL | NM_001190411.2 | c.-37+3805A>G | intron_variant | NP_001177340.1 | ||||
RPH3AL | NM_001190412.2 | c.-213+3805A>G | intron_variant | NP_001177341.1 | ||||
RPH3AL | NM_001190413.2 | c.-37+3805A>G | intron_variant | NP_001177342.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RPH3AL | ENST00000331302.12 | c.-213+3805A>G | intron_variant | 2 | NM_006987.4 | ENSP00000328977 | P1 |
Frequencies
GnomAD3 genomes AF: 0.211 AC: 32037AN: 152016Hom.: 3637 Cov.: 32
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GnomAD4 exome AF: 0.400 AC: 4AN: 10Hom.: 1 Cov.: 0 AF XY: 0.500 AC XY: 2AN XY: 4
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GnomAD4 genome AF: 0.211 AC: 32056AN: 152136Hom.: 3638 Cov.: 32 AF XY: 0.204 AC XY: 15145AN XY: 74376
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ClinVar
Not reported inComputational scores
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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