3-43348516-C-A

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_017719.5(SNRK):​c.2257C>A​(p.Leu753Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000781 in 1,409,136 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).

Frequency

Genomes: not found (cov: 32)
Exomes 𝑓: 0.0000078 ( 0 hom. )

Consequence

SNRK
NM_017719.5 missense

Scores

4
8
7

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 7.39
Variant links:
Genes affected
SNRK (HGNC:30598): (SNF related kinase) SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]
SNRK-AS1 (HGNC:41269): (SNRK antisense RNA 1)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
SNRKNM_017719.5 linkuse as main transcriptc.2257C>A p.Leu753Met missense_variant 7/7 ENST00000296088.12
SNRK-AS1NR_046757.1 linkuse as main transcriptn.1878G>T non_coding_transcript_exon_variant 3/3

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
SNRKENST00000296088.12 linkuse as main transcriptc.2257C>A p.Leu753Met missense_variant 7/71 NM_017719.5 P1Q9NRH2-1
SNRK-AS1ENST00000607513.2 linkuse as main transcriptn.607-210G>T intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
AF:
0.00000781
AC:
11
AN:
1409136
Hom.:
0
Cov.:
31
AF XY:
0.00000430
AC XY:
3
AN XY:
696872
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00000918
Gnomad4 OTH exome
AF:
0.0000172
GnomAD4 genome
Cov.:
32
Alfa
AF:
0.0000371
Hom.:
0
Bravo
AF:
0.00000378
ExAC
AF:
0.00000829
AC:
1

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.18
BayesDel_addAF
Uncertain
0.070
D
BayesDel_noAF
Benign
-0.14
CADD
Uncertain
26
DANN
Uncertain
1.0
DEOGEN2
Benign
0.065
T;T;T;.
Eigen
Pathogenic
0.74
Eigen_PC
Pathogenic
0.73
FATHMM_MKL
Uncertain
0.97
D
LIST_S2
Uncertain
0.86
.;.;D;D
M_CAP
Uncertain
0.28
D
MetaRNN
Uncertain
0.53
D;D;D;D
MetaSVM
Uncertain
0.20
D
MutationAssessor
Benign
0.90
L;L;L;.
MutationTaster
Benign
1.0
D;D;D;D
PrimateAI
Uncertain
0.62
T
PROVEAN
Benign
-0.15
N;N;N;N
REVEL
Benign
0.23
Sift
Pathogenic
0.0
D;D;D;D
Sift4G
Pathogenic
0.0
D;D;D;D
Polyphen
0.99
D;D;D;.
Vest4
0.64
MutPred
0.34
Gain of methylation at K749 (P = 0.0531);Gain of methylation at K749 (P = 0.0531);Gain of methylation at K749 (P = 0.0531);.;
MVP
0.56
MPC
1.5
ClinPred
0.73
D
GERP RS
5.2
Varity_R
0.57
gMVP
0.41

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: rs756776738; hg19: chr3-43390008; API