rs150432878

Variant names:

• chr3-196885537-T-A
• NM_152699.5:c.356T>A

Your query was ambiguous. Multiple possible variants found:

• chr3-196885537-T-A
• chr3-196885537-T-C

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_152699.5(SENP5):​c.356T>A​(p.Leu119Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L119P) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 32)
• Consequence: SENP5 NM_152699.5 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.32

Genes affected

SENP5 (HGNC:28407): (SUMO specific peptidase 5) The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.13788179).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SENP5	NM_152699.5	c.356T>A	p.Leu119Gln	missense_variant	Exon 2 of 10	ENST00000323460.10	NP_689912.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SENP5	ENST00000323460.10	c.356T>A	p.Leu119Gln	missense_variant	Exon 2 of 10	1	NM_152699.5	ENSP00000327197.5
SENP5	ENST00000445299.6	c.356T>A	p.Leu119Gln	missense_variant	Exon 2 of 9	2		ENSP00000390231.2
SENP5	ENST00000419026.5	c.-17-14129T>A		intron_variant	Intron 1 of 8	3		ENSP00000396927.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 32

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.083
BayesDel_addAF	Benign	-0.089	T
BayesDel_noAF	Benign	-0.37
CADD	Benign	13
DANN	Uncertain	0.99
DEOGEN2	Benign	0.021	.;T
Eigen	Benign	-0.074
Eigen_PC	Benign	-0.016
FATHMM_MKL	Benign	0.74	D
LIST_S2	Benign	0.84	T;T
M_CAP	Benign	0.024	T
MetaRNN	Benign	0.14	T;T
MetaSVM	Benign	-1.1	T
MutationAssessor	Benign	0.90	L;L
PrimateAI	Benign	0.35	T
PROVEAN	Benign	-0.25	N;N
REVEL	Benign	0.082
Sift	Uncertain	0.0010	D;D
Sift4G	Benign	0.091	T;T
Polyphen		0.14	.;B
Vest4		0.37
MutPred		0.24		Gain of solvent accessibility (P = 0.0374);Gain of solvent accessibility (P = 0.0374);
MVP		0.10
MPC		0.32
ClinPred		0.57	D
GERP RS		5.2
Varity_R		0.38
gMVP		0.19

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

No publications associated with this variant yet.

Other links and lift over

hg19: chr3-196612408;