rs1878007

Variant names:

• chr3-173081010-G-A
• rs1878007
• NM_031955.6:c.613-31916C>T

Your query was ambiguous. Multiple possible variants found:

• chr3-173081010-G-A
• chr3-173081010-G-C
• chr3-173081010-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_031955.6(SPATA16):​c.613-31916C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.14 in 152,094 control chromosomes in the GnomAD database, including 1,889 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 0.14 (1889 hom., cov: 32)
• Consequence: SPATA16 NM_031955.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0530
• Publications: 3 publications found

Genes affected

SPATA16 (HGNC:29935): (spermatogenesis associated 16) This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]

SPATA16 Gene-Disease associations (from GenCC):

• male infertility due to globozoospermia

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
• spermatogenic failure 6

  Inheritance: AR Classification: LIMITED Submitted by: Labcorp Genetics (formerly Invitae)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.271 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_031955.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SPATA16	NM_031955.6	MANE Select	c.613-31916C>T		intron	N/A	NP_114161.3

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SPATA16	ENST00000351008.4	TSL:1 MANE Select	c.613-31916C>T		intron	N/A	ENSP00000341765.3

Frequencies

GnomAD3 genomes AF: 0.140 AC: 21324 AN: 151976 Hom.: 1889 Cov.: 32

Gnomad AFR AF: 0.0369

Gnomad AMI AF: 0.114

Gnomad AMR AF: 0.156

Gnomad ASJ AF: 0.170

Gnomad EAS AF: 0.178

Gnomad SAS AF: 0.285

Gnomad FIN AF: 0.218

Gnomad MID AF: 0.156

Gnomad NFE AF: 0.173

Gnomad OTH AF: 0.154

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

GnomAD4 genome AF: 0.140 AC: 21319 AN: 152094 Hom.: 1889 Cov.: 32 AF XY: 0.145 AC XY: 10767 AN XY: 74342

African (AFR) AF: 0.0368 AC: 1529 AN: 41530

American (AMR) AF: 0.156 AC: 2378 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.170 AC: 588 AN: 3466

East Asian (EAS) AF: 0.179 AC: 920 AN: 5152

South Asian (SAS) AF: 0.284 AC: 1366 AN: 4814

European-Finnish (FIN) AF: 0.218 AC: 2297 AN: 10558

Middle Eastern (MID) AF: 0.161 AC: 47 AN: 292

European-Non Finnish (NFE) AF: 0.173 AC: 11769 AN: 67980

Other (OTH) AF: 0.152 AC: 321 AN: 2114

Alfa AF: 0.166 Hom.: 4138

Bravo AF: 0.130

Asia WGS AF: 0.219 AC: 762 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.2
DANN	Benign	0.40
PhyloP100		-0.053
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs1878007; hg19: chr3-172798800;