rs1510552

Positions:

• chr2-214052678-A-C

Variant summary

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

The ENST00000331683.10(SPAG16):​c.1527+38601A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.803 in 152,114 control chromosomes in the GnomAD database, including 49,493 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 0.80 (49493 hom., cov: 32)
• Consequence: SPAG16 ENST00000331683.10 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.96

Genes affected

SPAG16 (HGNC:23225): (sperm associated antigen 16) Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.875 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SPAG16	NM_024532.5	c.1527+38601A>C		intron_variant		ENST00000331683.10	NP_078808.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SPAG16	ENST00000331683.10	c.1527+38601A>C		intron_variant		1	NM_024532.5	ENSP00000332592	P1

Frequencies

GnomAD3 genomes AF: 0.803 AC: 122063 AN: 151994 Hom.: 49451 Cov.: 32

Gnomad AFR AF: 0.690

Gnomad AMI AF: 0.851

Gnomad AMR AF: 0.839

Gnomad ASJ AF: 0.817

Gnomad EAS AF: 0.799

Gnomad SAS AF: 0.898

Gnomad FIN AF: 0.881

Gnomad MID AF: 0.839

Gnomad NFE AF: 0.844

Gnomad OTH AF: 0.792

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

GnomAD4 genome AF: 0.803 AC: 122162 AN: 152114 Hom.: 49493 Cov.: 32 AF XY: 0.807 AC XY: 60015 AN XY: 74362

Gnomad4 AFR AF: 0.690

Gnomad4 AMR AF: 0.840

Gnomad4 ASJ AF: 0.817

Gnomad4 EAS AF: 0.799

Gnomad4 SAS AF: 0.898

Gnomad4 FIN AF: 0.881

Gnomad4 NFE AF: 0.844

Gnomad4 OTH AF: 0.794

Alfa AF: 0.832 Hom.: 101393

Bravo AF: 0.791

Asia WGS AF: 0.882 AC: 3067 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.016
DANN	Benign	0.45

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: rs1510552; hg19: chr2-214917402;