17-58631673-G-A

Position:

• chr17-58631673-G-A

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The NM_031272.5(TEX14):​c.137-1119C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.484 in 150,590 control chromosomes in the GnomAD database, including 18,337 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 0.48 (18336 hom., cov: 29)
  • Exomes 𝑓: 0.75 (1 hom.)
• Consequence: TEX14 NM_031272.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.20

Genes affected

TEX14 (HGNC:11737): (testis expressed 14, intercellular bridge forming factor) The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]

U3 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.43).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.553 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TEX14	NM_031272.5	c.137-1119C>T		intron_variant		ENST00000349033.10	NP_112562.3
TEX14	NM_001201457.2	c.137-1119C>T		intron_variant			NP_001188386.1
TEX14	NM_198393.4	c.137-1119C>T		intron_variant			NP_938207.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TEX14	ENST00000349033.10	c.137-1119C>T		intron_variant		5	NM_031272.5	ENSP00000268910	A2
U3	ENST00000390893.2	n.164C>T		non_coding_transcript_exon_variant	1/1

Frequencies

GnomAD3 genomes AF: 0.484 AC: 72887 AN: 150506 Hom.: 18320 Cov.: 29

Gnomad AFR AF: 0.409

Gnomad AMI AF: 0.553

Gnomad AMR AF: 0.439

Gnomad ASJ AF: 0.521

Gnomad EAS AF: 0.179

Gnomad SAS AF: 0.335

Gnomad FIN AF: 0.565

Gnomad MID AF: 0.561

Gnomad NFE AF: 0.557

Gnomad OTH AF: 0.507

GnomAD4 exome AF: 0.750 AC: 3 AN: 4 Hom.: 1 Cov.: 0 AC XY: 0 AN XY: 0

Gnomad4 FIN exome AF: 0.750

GnomAD4 genome AF: 0.484 AC: 72938 AN: 150586 Hom.: 18336 Cov.: 29 AF XY: 0.481 AC XY: 35329 AN XY: 73402

Gnomad4 AFR AF: 0.410

Gnomad4 AMR AF: 0.439

Gnomad4 ASJ AF: 0.521

Gnomad4 EAS AF: 0.180

Gnomad4 SAS AF: 0.335

Gnomad4 FIN AF: 0.565

Gnomad4 NFE AF: 0.557

Gnomad4 OTH AF: 0.503

Alfa AF: 0.378 Hom.: 1053

Bravo AF: 0.466

Asia WGS AF: 0.263 AC: 916 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.43
CADD	Benign	6.3
DANN	Benign	0.76
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.2

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: rs411988; hg19: chr17-56709034;