Menu
GeneBe

rs3801813

Variant summary

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

The NM_003930.5(SKAP2):c.200-3313A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.212 in 151,650 control chromosomes in the GnomAD database, including 3,492 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 0.21 ( 3492 hom., cov: 31)

Consequence

SKAP2
NM_003930.5 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.71
Variant links:
Genes affected
SKAP2 (HGNC:15687): (src kinase associated phosphoprotein 2) The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

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=-0.61).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.233 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
SKAP2NM_003930.5 linkuse as main transcriptc.200-3313A>G intron_variant ENST00000345317.7
LOC124901606XR_007060265.1 linkuse as main transcriptn.201-10014T>C intron_variant, non_coding_transcript_variant
SKAP2NM_001303468.2 linkuse as main transcriptc.-317-3313A>G intron_variant
SKAP2XM_017012771.3 linkuse as main transcriptc.200-3313A>G intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
SKAP2ENST00000345317.7 linkuse as main transcriptc.200-3313A>G intron_variant 1 NM_003930.5 P1

Frequencies

GnomAD3 genomes
AF:
0.212
AC:
32180
AN:
151540
Hom.:
3494
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.181
Gnomad AMI
AF:
0.343
Gnomad AMR
AF:
0.222
Gnomad ASJ
AF:
0.269
Gnomad EAS
AF:
0.0966
Gnomad SAS
AF:
0.214
Gnomad FIN
AF:
0.194
Gnomad MID
AF:
0.222
Gnomad NFE
AF:
0.236
Gnomad OTH
AF:
0.211
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.212
AC:
32180
AN:
151650
Hom.:
3492
Cov.:
31
AF XY:
0.210
AC XY:
15587
AN XY:
74054
show subpopulations
Gnomad4 AFR
AF:
0.181
Gnomad4 AMR
AF:
0.222
Gnomad4 ASJ
AF:
0.269
Gnomad4 EAS
AF:
0.0968
Gnomad4 SAS
AF:
0.213
Gnomad4 FIN
AF:
0.194
Gnomad4 NFE
AF:
0.236
Gnomad4 OTH
AF:
0.209
Alfa
AF:
0.109
Hom.:
159
Bravo
AF:
0.213
Asia WGS
AF:
0.152
AC:
529
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.61
Cadd
Benign
17
Dann
Benign
0.48

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: rs3801813; hg19: chr7-26887069; API