rs10727

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000307534.10(PANK1):​c.292+10250T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.808 in 152,144 control chromosomes in the GnomAD database, including 50,267 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 0.81 ( 50267 hom., cov: 31)

Consequence

PANK1
ENST00000307534.10 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.0580
Variant links:
Genes affected
PANK1 (HGNC:8598): (pantothenate kinase 1) This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]

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=-0.93).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.911 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
PANK1NM_148977.3 linkuse as main transcriptc.292+10250T>C intron_variant ENST00000307534.10 NP_683878.2

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
PANK1ENST00000307534.10 linkuse as main transcriptc.292+10250T>C intron_variant 1 NM_148977.3 ENSP00000302108
PANK1ENST00000322191.10 linkuse as main transcriptc.28+9347T>C intron_variant 1 ENSP00000318526 Q8TE04-3
PANK1ENST00000342512.4 linkuse as main transcriptc.28+9347T>C intron_variant 1 ENSP00000345118 P1Q8TE04-2
PANK1ENST00000488482.1 linkuse as main transcriptn.261-7718T>C intron_variant, non_coding_transcript_variant 2

Frequencies

GnomAD3 genomes
AF:
0.808
AC:
122838
AN:
152024
Hom.:
50201
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.917
Gnomad AMI
AF:
0.603
Gnomad AMR
AF:
0.814
Gnomad ASJ
AF:
0.746
Gnomad EAS
AF:
0.923
Gnomad SAS
AF:
0.934
Gnomad FIN
AF:
0.804
Gnomad MID
AF:
0.693
Gnomad NFE
AF:
0.731
Gnomad OTH
AF:
0.780
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.808
AC:
122964
AN:
152144
Hom.:
50267
Cov.:
31
AF XY:
0.814
AC XY:
60579
AN XY:
74382
show subpopulations
Gnomad4 AFR
AF:
0.917
Gnomad4 AMR
AF:
0.815
Gnomad4 ASJ
AF:
0.746
Gnomad4 EAS
AF:
0.924
Gnomad4 SAS
AF:
0.934
Gnomad4 FIN
AF:
0.804
Gnomad4 NFE
AF:
0.731
Gnomad4 OTH
AF:
0.783
Alfa
AF:
0.779
Hom.:
7900
Bravo
AF:
0.807
Asia WGS
AF:
0.928
AC:
3226
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.93
CADD
Benign
3.5
DANN
Benign
0.81

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: rs10727; hg19: chr10-91394107; API