rs7250822
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 8P and 8B. PVS1BA1
The NM_144616.4(JSRP1):c.3G>C(p.Met1?) variant causes a start lost change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0569 in 1,605,768 control chromosomes in the GnomAD database, including 9,892 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 0.16 ( 4189 hom., cov: 32)
Exomes 𝑓: 0.047 ( 5703 hom. )
Consequence
JSRP1
NM_144616.4 start_lost
NM_144616.4 start_lost
Scores
1
14
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.00100
Genes affected
JSRP1 (HGNC:24963): (junctional sarcoplasmic reticulum protein 1) The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PVS1
?
Start lost variant, no new inframe start found.
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.415 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
JSRP1 | NM_144616.4 | c.3G>C | p.Met1? | start_lost | 2/7 | ENST00000300961.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
JSRP1 | ENST00000300961.10 | c.3G>C | p.Met1? | start_lost | 2/7 | 2 | NM_144616.4 | P1 | |
JSRP1 | ENST00000593238.2 | n.459G>C | non_coding_transcript_exon_variant | 2/5 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.155 AC: 23626AN: 152060Hom.: 4183 Cov.: 32
GnomAD3 genomes
?
AF:
AC:
23626
AN:
152060
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:
GnomAD3 exomes AF: 0.0883 AC: 21554AN: 244088Hom.: 2461 AF XY: 0.0805 AC XY: 10724AN XY: 133180
GnomAD3 exomes
AF:
AC:
21554
AN:
244088
Hom.:
AF XY:
AC XY:
10724
AN XY:
133180
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad SAS exome
AF:
Gnomad FIN exome
AF:
Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 0.0466 AC: 67725AN: 1453590Hom.: 5703 Cov.: 30 AF XY: 0.0468 AC XY: 33839AN XY: 723100
GnomAD4 exome
AF:
AC:
67725
AN:
1453590
Hom.:
Cov.:
30
AF XY:
AC XY:
33839
AN XY:
723100
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome ? AF: 0.156 AC: 23674AN: 152178Hom.: 4189 Cov.: 32 AF XY: 0.155 AC XY: 11561AN XY: 74418
GnomAD4 genome
?
AF:
AC:
23674
AN:
152178
Hom.:
Cov.:
32
AF XY:
AC XY:
11561
AN XY:
74418
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:
TwinsUK
AF:
AC:
67
ALSPAC
AF:
AC:
84
ESP6500AA
AF:
AC:
1817
ESP6500EA
AF:
AC:
209
ExAC
?
AF:
AC:
10997
Asia WGS
AF:
AC:
787
AN:
3478
EpiCase
AF:
EpiControl
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
DEOGEN2
Benign
T
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Uncertain
D
MetaRNN
Benign
T
MetaSVM
Benign
T
MutationTaster
Benign
P;P
PROVEAN
Benign
N
REVEL
Benign
Sift
Benign
T
Sift4G
Benign
T
Polyphen
B
Vest4
MutPred
Loss of disorder (P = 0.0385);
ClinPred
T
GERP RS
Varity_R
gMVP
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