chr1-98987731-T-C
Position:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001037317.2(PLPPR5):c.237+16704A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.298 in 151,694 control chromosomes in the GnomAD database, including 7,960 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 0.30 ( 7960 hom., cov: 32)
Consequence
PLPPR5
NM_001037317.2 intron
NM_001037317.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.308
Genes affected
PLPPR5 (HGNC:31703): (phospholipid phosphatase related 5) The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.398 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLPPR5 | NM_001037317.2 | c.237+16704A>G | intron_variant | ENST00000263177.5 | NP_001032394.1 | |||
PLPPR5 | NM_001010861.3 | c.237+16704A>G | intron_variant | NP_001010861.1 | ||||
PLPPR5 | XM_011540838.4 | c.189+16704A>G | intron_variant | XP_011539140.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLPPR5 | ENST00000263177.5 | c.237+16704A>G | intron_variant | 1 | NM_001037317.2 | ENSP00000263177 | P4 | |||
PLPPR5 | ENST00000370188.7 | c.237+16704A>G | intron_variant | 1 | ENSP00000359207 | A1 | ||||
PLPPR5 | ENST00000672681.1 | c.237+16704A>G | intron_variant | ENSP00000500930 | ||||||
PLPPR5 | ENST00000696571.1 | c.73-30990A>G | intron_variant | ENSP00000512726 |
Frequencies
GnomAD3 genomes AF: 0.298 AC: 45129AN: 151576Hom.: 7962 Cov.: 32
GnomAD3 genomes
AF:
AC:
45129
AN:
151576
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.298 AC: 45130AN: 151694Hom.: 7960 Cov.: 32 AF XY: 0.294 AC XY: 21771AN XY: 74082
GnomAD4 genome
AF:
AC:
45130
AN:
151694
Hom.:
Cov.:
32
AF XY:
AC XY:
21771
AN XY:
74082
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
500
AN:
3472
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at