rs7331042

Positions:

• chr13-24209049-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001166271.3(SPATA13):​c.-111-13770C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.322 in 152,054 control chromosomes in the GnomAD database, including 9,541 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 0.32 (9541 hom., cov: 32)
• Consequence: SPATA13 NM_001166271.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.32

Genes affected

SPATA13 (HGNC:23222): (spermatogenesis associated 13) Enables guanyl-nucleotide exchange factor activity and identical protein binding activity. Involved in cell migration; plasma membrane bounded cell projection assembly; and regulation of cell migration. Located in several cellular components, including filopodium; lamellipodium; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.611 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SPATA13	NM_001166271.3	c.-111-13770C>T		intron_variant		ENST00000382108.8	NP_001159743.1
SPATA13	NM_001286792.2	c.76-13770C>T		intron_variant			NP_001273721.1
SPATA13	NM_153023.4	c.-222-40428C>T		intron_variant			NP_694568.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SPATA13	ENST00000382108.8	c.-111-13770C>T		intron_variant		5	NM_001166271.3	ENSP00000371542
SPATA13	ENST00000424834.6	c.-111-13770C>T		intron_variant		1		ENSP00000398560
SPATA13	ENST00000382095.8	c.-222-40428C>T		intron_variant		2		ENSP00000371527
SPATA13	ENST00000466831.2	n.212-13770C>T		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.322 AC: 48997 AN: 151936 Hom.: 9529 Cov.: 32

Gnomad AFR AF: 0.123

Gnomad AMI AF: 0.238

Gnomad AMR AF: 0.501

Gnomad ASJ AF: 0.348

Gnomad EAS AF: 0.628

Gnomad SAS AF: 0.491

Gnomad FIN AF: 0.343

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.365

Gnomad OTH AF: 0.332

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.322 AC: 49031 AN: 152054 Hom.: 9541 Cov.: 32 AF XY: 0.332 AC XY: 24652 AN XY: 74320

Gnomad4 AFR AF: 0.123

Gnomad4 AMR AF: 0.501

Gnomad4 ASJ AF: 0.348

Gnomad4 EAS AF: 0.629

Gnomad4 SAS AF: 0.491

Gnomad4 FIN AF: 0.343

Gnomad4 NFE AF: 0.365

Gnomad4 OTH AF: 0.330

Alfa AF: 0.344 Hom.: 1247

Bravo AF: 0.326

Asia WGS AF: 0.490 AC: 1702 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.14
DANN	Benign	0.40

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

Other links and lift over

dbSNP: rs7331042; hg19: chr13-24783187;