chr2-200439125-G-A

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2

The NM_001100423.2(SPATS2L):​c.449G>A​(p.Gly150Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00409 in 1,612,540 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: 𝑓 0.0025 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0043 ( 14 hom. )

Consequence

SPATS2L
NM_001100423.2 missense

Scores

3
16

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: 2.82
Variant links:
Genes affected
SPATS2L (HGNC:24574): (spermatogenesis associated serine rich 2 like) Enables RNA binding activity. Located in cytosol; nucleolus; and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -10 ACMG points.

BP4
Computational evidence support a benign effect (MetaRNN=0.006936401).
BP6
Variant 2-200439125-G-A is Benign according to our data. Variant chr2-200439125-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 718410.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High Homozygotes in GnomAdExome4 at 14 AR gene

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
SPATS2LNM_001100423.2 linkuse as main transcriptc.449G>A p.Gly150Asp missense_variant 7/13 ENST00000409140.8
LOC101927741XR_007088047.1 linkuse as main transcriptn.663-7588C>T intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
SPATS2LENST00000409140.8 linkuse as main transcriptc.449G>A p.Gly150Asp missense_variant 7/132 NM_001100423.2 P1Q9NUQ6-1
ENST00000655656.1 linkuse as main transcriptn.567-7588C>T intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes
AF:
0.00248
AC:
377
AN:
152144
Hom.:
0
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.000893
Gnomad AMI
AF:
0.00110
Gnomad AMR
AF:
0.00223
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.000414
Gnomad FIN
AF:
0.00179
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00409
Gnomad OTH
AF:
0.00287
GnomAD3 exomes
AF:
0.00264
AC:
655
AN:
248574
Hom.:
0
AF XY:
0.00269
AC XY:
363
AN XY:
134824
show subpopulations
Gnomad AFR exome
AF:
0.00103
Gnomad AMR exome
AF:
0.00122
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00124
Gnomad FIN exome
AF:
0.00237
Gnomad NFE exome
AF:
0.00426
Gnomad OTH exome
AF:
0.00465
GnomAD4 exome
AF:
0.00426
AC:
6226
AN:
1460278
Hom.:
14
Cov.:
31
AF XY:
0.00413
AC XY:
2997
AN XY:
726510
show subpopulations
Gnomad4 AFR exome
AF:
0.000628
Gnomad4 AMR exome
AF:
0.00143
Gnomad4 ASJ exome
AF:
0.0000383
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00121
Gnomad4 FIN exome
AF:
0.00242
Gnomad4 NFE exome
AF:
0.00514
Gnomad4 OTH exome
AF:
0.00327
GnomAD4 genome
AF:
0.00248
AC:
377
AN:
152262
Hom.:
0
Cov.:
32
AF XY:
0.00223
AC XY:
166
AN XY:
74452
show subpopulations
Gnomad4 AFR
AF:
0.000891
Gnomad4 AMR
AF:
0.00222
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.000415
Gnomad4 FIN
AF:
0.00179
Gnomad4 NFE
AF:
0.00409
Gnomad4 OTH
AF:
0.00284
Alfa
AF:
0.00381
Hom.:
2
Bravo
AF:
0.00225
TwinsUK
AF:
0.00539
AC:
20
ALSPAC
AF:
0.00493
AC:
19
ESP6500AA
AF:
0.000797
AC:
3
ESP6500EA
AF:
0.00425
AC:
35
ExAC
AF:
0.00271
AC:
328
EpiCase
AF:
0.00458
EpiControl
AF:
0.00368

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Likely benign, criteria provided, single submitterclinical testingLabcorp Genetics (formerly Invitae), LabcorpJun 21, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.093
BayesDel_addAF
Benign
-0.31
T
BayesDel_noAF
Benign
-0.22
CADD
Benign
22
DANN
Uncertain
0.98
DEOGEN2
Benign
0.0017
T;T;T;T;T;T;T;.;.;.
Eigen
Benign
0.13
Eigen_PC
Uncertain
0.26
FATHMM_MKL
Uncertain
0.93
D
LIST_S2
Benign
0.85
.;.;.;T;.;T;T;T;T;T
M_CAP
Benign
0.0054
T
MetaRNN
Benign
0.0069
T;T;T;T;T;T;T;T;T;T
MetaSVM
Benign
-0.87
T
MutationAssessor
Benign
1.6
L;L;L;.;L;.;L;.;.;.
MutationTaster
Benign
1.0
D;D;D;D;D;D;D;D;D
PrimateAI
Benign
0.45
T
PROVEAN
Benign
-0.79
N;N;N;N;N;N;N;.;N;N
REVEL
Benign
0.10
Sift
Benign
0.38
T;T;T;T;T;T;T;.;T;D
Sift4G
Benign
0.63
T;T;T;T;T;T;T;T;.;T
Polyphen
0.51
P;P;P;.;P;.;P;.;.;.
Vest4
0.21
MVP
0.043
MPC
0.70
ClinPred
0.015
T
GERP RS
5.2
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.1
Varity_R
0.14
gMVP
0.55

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.12
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: rs192861441; hg19: chr2-201303848; API