rs11909217
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001302998.2(LIPI):c.164G>A(p.Cys55Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00352 in 1,613,860 control chromosomes in the GnomAD database, including 37 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0071 ( 11 hom., cov: 32)
Exomes 𝑓: 0.0031 ( 26 hom. )
Consequence
LIPI
NM_001302998.2 missense
NM_001302998.2 missense
Scores
6
4
5
Clinical Significance
Conservation
PhyloP100: 4.99
Genes affected
LIPI (HGNC:18821): (lipase I) The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.014380097).
BP6
?
Variant 21-14189302-C-T is Benign according to our data. Variant chr21-14189302-C-T is described in ClinVar as [Benign]. Clinvar id is 1822.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr21-14189302-C-T is described in Lovd as [Benign].
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00712 (1084/152256) while in subpopulation AFR AF= 0.0178 (738/41560). AF 95% confidence interval is 0.0167. There are 11 homozygotes in gnomad4. There are 527 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High AC in GnomAd at 1083 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LIPI | NM_001302998.2 | c.164G>A | p.Cys55Tyr | missense_variant | 2/10 | ENST00000681601.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LIPI | ENST00000681601.1 | c.164G>A | p.Cys55Tyr | missense_variant | 2/10 | NM_001302998.2 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00712 AC: 1083AN: 152138Hom.: 11 Cov.: 32
GnomAD3 genomes
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GnomAD3 exomes AF: 0.00472 AC: 1187AN: 251350Hom.: 7 AF XY: 0.00468 AC XY: 636AN XY: 135852
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GnomAD4 exome AF: 0.00315 AC: 4602AN: 1461604Hom.: 26 Cov.: 31 AF XY: 0.00326 AC XY: 2367AN XY: 727108
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GnomAD4 genome ? AF: 0.00712 AC: 1084AN: 152256Hom.: 11 Cov.: 32 AF XY: 0.00708 AC XY: 527AN XY: 74438
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ESP6500AA
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84
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597
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ClinVar
Significance: Benign
Submissions summary: Uncertain:1Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Hypertriglyceridemia 1 Uncertain:1
Uncertain significance, no assertion criteria provided | literature only | OMIM | May 15, 2003 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 22, 2024 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Uncertain
Dann
Uncertain
Eigen
Pathogenic
Eigen_PC
Pathogenic
FATHMM_MKL
Pathogenic
D
LIST_S2
Benign
T;T;T
MetaRNN
Benign
T;T;T
MetaSVM
Uncertain
D
MutationTaster
Benign
D;D
PrimateAI
Uncertain
T
PROVEAN
Pathogenic
D;.;.
REVEL
Uncertain
Sift
Pathogenic
D;.;.
Sift4G
Pathogenic
D;D;D
Polyphen
D;.;.
Vest4
MVP
MPC
ClinPred
T
GERP RS
gMVP
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