17-50552097-A-T

Position:

• chr17-50552097-A-T

Variant summary

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

The NM_022827.4(SPATA20):​c.1874A>T​(p.Lys625Met) 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. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: SPATA20 NM_022827.4 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.325

Genes affected

SPATA20 (HGNC:26125): (spermatogenesis associated 20) Predicted to be involved in carbohydrate metabolic process; cell differentiation; and spermatogenesis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]

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=0.22804731).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SPATA20	NM_022827.4	c.1874A>T	p.Lys625Met	missense_variant	14/17	ENST00000006658.11	NP_073738.2
SPATA20	NM_001258372.2	c.1826A>T	p.Lys609Met	missense_variant	13/16		NP_001245301.1
SPATA20	NM_001258373.2	c.1694A>T	p.Lys565Met	missense_variant	14/17		NP_001245302.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SPATA20	ENST00000006658.11	c.1874A>T	p.Lys625Met	missense_variant	14/17	1	NM_022827.4	ENSP00000006658

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 59

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.13
BayesDel_addAF	Benign	-0.16	T
BayesDel_noAF	Benign	-0.47
CADD	Benign	21
DANN	Uncertain	0.99
DEOGEN2	Benign	0.38	.;.;T;T
Eigen	Benign	-0.22
Eigen_PC	Benign	-0.19
FATHMM_MKL	Uncertain	0.82	D
LIST_S2	Benign	0.69	T;T;T;T
M_CAP	Benign	0.029	D
MetaRNN	Benign	0.23	T;T;T;T
MetaSVM	Benign	-0.89	T
MutationAssessor	Uncertain	2.7	.;.;M;.
MutationTaster	Benign	1.0	P;P;P
PrimateAI	Benign	0.32	T
PROVEAN	Uncertain	-2.6	.;D;D;.
REVEL	Benign	0.037
Sift	Uncertain	0.010	.;D;D;.
Sift4G	Uncertain	0.033	D;D;D;D
Polyphen		0.58, 0.15	.;P;B;.
Vest4		0.34
MutPred		0.42		.;.;Loss of ubiquitination at K609 (P = 0.0309);Loss of ubiquitination at K609 (P = 0.0309);
MVP		0.13
MPC		0.53
ClinPred		0.96	D
GERP RS		1.6
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.0
Varity_R		0.11
gMVP		0.32

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.13		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

Other links and lift over

dbSNP: rs8065903; hg19: chr17-48629458;