2-213691803-G-T

Variant names:

• chr2-213691803-G-T
• rs4132244
• NM_024532.5:c.1071-170682G>T

Variant summary

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

The NM_024532.5(SPAG16):​c.1071-170682G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.314 in 152,058 control chromosomes in the GnomAD database, including 7,770 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 0.31 (7770 hom., cov: 32)
• Consequence: SPAG16 NM_024532.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.390

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=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.346 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SPAG16	NM_024532.5	c.1071-170682G>T		intron_variant	Intron 10 of 15	ENST00000331683.10	NP_078808.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SPAG16	ENST00000331683.10	c.1071-170682G>T		intron_variant	Intron 10 of 15	1	NM_024532.5	ENSP00000332592.5
SPAG16	ENST00000406979.6	n.*1072-170682G>T		intron_variant	Intron 12 of 17	1		ENSP00000385496.2
SPAG16	ENST00000451561.1	c.129-170682G>T		intron_variant	Intron 1 of 5	3		ENSP00000416600.1
SPAG16	ENST00000452556.5	n.*637-170682G>T		intron_variant	Intron 8 of 13	2		ENSP00000398926.1

Frequencies

GnomAD3 genomes AF: 0.314 AC: 47723 AN: 151940 Hom.: 7759 Cov.: 32

Gnomad AFR AF: 0.274

Gnomad AMI AF: 0.173

Gnomad AMR AF: 0.302

Gnomad ASJ AF: 0.380

Gnomad EAS AF: 0.311

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.265

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.350

Gnomad OTH AF: 0.358

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

GnomAD4 genome AF: 0.314 AC: 47767 AN: 152058 Hom.: 7770 Cov.: 32 AF XY: 0.309 AC XY: 22994 AN XY: 74338

Gnomad4 AFR AF: 0.274

Gnomad4 AMR AF: 0.302

Gnomad4 ASJ AF: 0.380

Gnomad4 EAS AF: 0.312

Gnomad4 SAS AF: 0.256

Gnomad4 FIN AF: 0.265

Gnomad4 NFE AF: 0.350

Gnomad4 OTH AF: 0.353

Alfa AF: 0.338 Hom.: 17564

Bravo AF: 0.318

Asia WGS AF: 0.240 AC: 835 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	4.6
DANN	Benign	0.55

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: rs4132244; hg19: chr2-214556527;