rs4949402
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Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_178865.5(SERINC2):āc.450T>Cā(p.Ile150=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.53 in 1,609,294 control chromosomes in the GnomAD database, including 234,734 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: š 0.45 ( 17229 hom., cov: 33)
Exomes š: 0.54 ( 217505 hom. )
Consequence
SERINC2
NM_178865.5 synonymous
NM_178865.5 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.326
Genes affected
SERINC2 (HGNC:23231): (serine incorporator 2) Predicted to be involved in several processes, including phosphatidylserine metabolic process; positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity; and positive regulation of serine C-palmitoyltransferase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -13 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.53).
BP7
?
Synonymous conserved (PhyloP=0.326 with no splicing effect.
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.57 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERINC2 | NM_178865.5 | c.450T>C | p.Ile150= | synonymous_variant | 4/10 | ENST00000373709.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERINC2 | ENST00000373709.8 | c.450T>C | p.Ile150= | synonymous_variant | 4/10 | 1 | NM_178865.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.447 AC: 67896AN: 151854Hom.: 17228 Cov.: 33
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GnomAD3 exomes AF: 0.491 AC: 123376AN: 251328Hom.: 31912 AF XY: 0.495 AC XY: 67237AN XY: 135866
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GnomAD4 exome AF: 0.539 AC: 785556AN: 1457322Hom.: 217505 Cov.: 34 AF XY: 0.536 AC XY: 388456AN XY: 725276
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GnomAD4 genome ? AF: 0.447 AC: 67895AN: 151972Hom.: 17229 Cov.: 33 AF XY: 0.444 AC XY: 32985AN XY: 74282
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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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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at