rs2485911

Variant names:

• chr1-48445304-G-A
• rs2485911
• NM_019073.4:c.238+6248C>T

Variant summary

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

The NM_019073.4(SPATA6):​c.238+6248C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.4 in 151,994 control chromosomes in the GnomAD database, including 12,847 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 0.40 (12847 hom., cov: 32)
• Consequence: SPATA6 NM_019073.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.711
• Publications: 6 publications found

Genes affected

SPATA6 (HGNC:18309): (spermatogenesis associated 6) Predicted to enable myosin light chain binding activity. Predicted to be involved in motile cilium assembly and spermatogenesis. Predicted to be located in extracellular region. Predicted to be active in sperm connecting piece. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.54 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_019073.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SPATA6	NM_019073.4	MANE Select	c.238+6248C>T		intron	N/A	NP_061946.1	Q9NWH7-1
	SPATA6	NM_001286239.2		c.238+6248C>T		intron	N/A	NP_001273168.1	A8MU33
	SPATA6	NM_001286238.2		c.238+6248C>T		intron	N/A	NP_001273167.1	Q9NWH7-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SPATA6	ENST00000371847.8	TSL:1 MANE Select	c.238+6248C>T		intron	N/A	ENSP00000360913.3	Q9NWH7-1
	SPATA6	ENST00000371843.7	TSL:1	c.238+6248C>T		intron	N/A	ENSP00000360909.3	Q9NWH7-2
	SPATA6	ENST00000396199.7	TSL:2	c.238+6248C>T		intron	N/A	ENSP00000379502.4	A8MU33

Frequencies

GnomAD3 genomes AF: 0.400 AC: 60727 AN: 151878 Hom.: 12828 Cov.: 32

Gnomad AFR AF: 0.546

Gnomad AMI AF: 0.344

Gnomad AMR AF: 0.404

Gnomad ASJ AF: 0.302

Gnomad EAS AF: 0.187

Gnomad SAS AF: 0.360

Gnomad FIN AF: 0.317

Gnomad MID AF: 0.396

Gnomad NFE AF: 0.349

Gnomad OTH AF: 0.375

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

GnomAD4 genome AF: 0.400 AC: 60782 AN: 151994 Hom.: 12847 Cov.: 32 AF XY: 0.395 AC XY: 29326 AN XY: 74296

African (AFR) AF: 0.546 AC: 22614 AN: 41432

American (AMR) AF: 0.404 AC: 6171 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.302 AC: 1046 AN: 3468

East Asian (EAS) AF: 0.187 AC: 964 AN: 5162

South Asian (SAS) AF: 0.361 AC: 1739 AN: 4820

European-Finnish (FIN) AF: 0.317 AC: 3348 AN: 10568

Middle Eastern (MID) AF: 0.381 AC: 112 AN: 294

European-Non Finnish (NFE) AF: 0.349 AC: 23688 AN: 67948

Other (OTH) AF: 0.373 AC: 787 AN: 2112

Alfa AF: 0.382 Hom.: 1995

Bravo AF: 0.411

Asia WGS AF: 0.278 AC: 970 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	4.5
DANN	Benign	0.37
PhyloP100		0.71
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: rs2485911; hg19: chr1-48910976; COSMIC: COSV64060496; COSMIC: COSV64060496;