chr1-98987731-T-C

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

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.308
Variant links:
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]

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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
PLPPR5NM_001037317.2 linkuse as main transcriptc.237+16704A>G intron_variant ENST00000263177.5 NP_001032394.1
PLPPR5NM_001010861.3 linkuse as main transcriptc.237+16704A>G intron_variant NP_001010861.1
PLPPR5XM_011540838.4 linkuse as main transcriptc.189+16704A>G intron_variant XP_011539140.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
PLPPR5ENST00000263177.5 linkuse as main transcriptc.237+16704A>G intron_variant 1 NM_001037317.2 ENSP00000263177 P4Q32ZL2-1
PLPPR5ENST00000370188.7 linkuse as main transcriptc.237+16704A>G intron_variant 1 ENSP00000359207 A1Q32ZL2-2
PLPPR5ENST00000672681.1 linkuse as main transcriptc.237+16704A>G intron_variant ENSP00000500930
PLPPR5ENST00000696571.1 linkuse as main transcriptc.73-30990A>G intron_variant ENSP00000512726

Frequencies

GnomAD3 genomes
AF:
0.298
AC:
45129
AN:
151576
Hom.:
7962
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.141
Gnomad AMI
AF:
0.569
Gnomad AMR
AF:
0.328
Gnomad ASJ
AF:
0.241
Gnomad EAS
AF:
0.0349
Gnomad SAS
AF:
0.244
Gnomad FIN
AF:
0.349
Gnomad MID
AF:
0.291
Gnomad NFE
AF:
0.402
Gnomad OTH
AF:
0.293
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.298
AC:
45130
AN:
151694
Hom.:
7960
Cov.:
32
AF XY:
0.294
AC XY:
21771
AN XY:
74082
show subpopulations
Gnomad4 AFR
AF:
0.141
Gnomad4 AMR
AF:
0.328
Gnomad4 ASJ
AF:
0.241
Gnomad4 EAS
AF:
0.0348
Gnomad4 SAS
AF:
0.245
Gnomad4 FIN
AF:
0.349
Gnomad4 NFE
AF:
0.402
Gnomad4 OTH
AF:
0.291
Alfa
AF:
0.366
Hom.:
13481
Bravo
AF:
0.289
Asia WGS
AF:
0.143
AC:
500
AN:
3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.89
CADD
Benign
8.8
DANN
Benign
0.84

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs10443196; hg19: chr1-99453287; API