rs1713423

Variant names:

• chr14-20391914-G-A
• rs1713423
• NM_007110.5:c.1929-147C>T

Variant summary

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

The NM_007110.5(TEP1):​c.1929-147C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.503 in 777,976 control chromosomes in the GnomAD database, including 102,256 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 0.57 (25330 hom., cov: 30)
  • Exomes 𝑓: 0.49 (76926 hom.)
• Consequence: TEP1 NM_007110.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.47
• Publications: 13 publications found

Genes affected

TEP1 (HGNC:11726): (telomerase associated protein 1) This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

TEP1 Gene-Disease associations (from GenCC):

• cerebral palsy

  Inheritance: AD Classification: MODERATE Submitted by: PanelApp Australia

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.733 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_007110.5. 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
	TEP1	NM_007110.5	MANE Select	c.1929-147C>T		intron	N/A	NP_009041.2
	TEP1	NM_001319035.2		c.1605-147C>T		intron	N/A	NP_001305964.1	G3V5X7

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TEP1	ENST00000262715.10	TSL:1 MANE Select	c.1929-147C>T		intron	N/A	ENSP00000262715.5	Q99973-1
	TEP1	ENST00000556935.5	TSL:1	c.1605-147C>T		intron	N/A	ENSP00000452574.1	G3V5X7
	TEP1	ENST00000555727.5	TSL:1	n.1929-147C>T		intron	N/A	ENSP00000451634.1	G3V470

Frequencies

GnomAD3 genomes AF: 0.565 AC: 85666 AN: 151618 Hom.: 25277 Cov.: 30

Gnomad AFR AF: 0.739

Gnomad AMI AF: 0.458

Gnomad AMR AF: 0.591

Gnomad ASJ AF: 0.487

Gnomad EAS AF: 0.617

Gnomad SAS AF: 0.553

Gnomad FIN AF: 0.433

Gnomad MID AF: 0.478

Gnomad NFE AF: 0.477

Gnomad OTH AF: 0.544

GnomAD4 exome AF: 0.488 AC: 305432 AN: 626240 Hom.: 76926 AF XY: 0.489 AC XY: 157719 AN XY: 322656

African (AFR) AF: 0.742 AC: 11676 AN: 15734

American (AMR) AF: 0.614 AC: 12643 AN: 20576

Ashkenazi Jewish (ASJ) AF: 0.479 AC: 7171 AN: 14958

East Asian (EAS) AF: 0.571 AC: 18200 AN: 31874

South Asian (SAS) AF: 0.547 AC: 27857 AN: 50924

European-Finnish (FIN) AF: 0.428 AC: 14132 AN: 33002

Middle Eastern (MID) AF: 0.453 AC: 1262 AN: 2784

European-Non Finnish (NFE) AF: 0.463 AC: 196661 AN: 424728

Other (OTH) AF: 0.500 AC: 15830 AN: 31660

GnomAD4 genome AF: 0.565 AC: 85775 AN: 151736 Hom.: 25330 Cov.: 30 AF XY: 0.563 AC XY: 41713 AN XY: 74108

African (AFR) AF: 0.739 AC: 30600 AN: 41382

American (AMR) AF: 0.592 AC: 9026 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.487 AC: 1684 AN: 3460

East Asian (EAS) AF: 0.617 AC: 3173 AN: 5146

South Asian (SAS) AF: 0.552 AC: 2647 AN: 4794

European-Finnish (FIN) AF: 0.433 AC: 4547 AN: 10506

Middle Eastern (MID) AF: 0.473 AC: 139 AN: 294

European-Non Finnish (NFE) AF: 0.477 AC: 32386 AN: 67888

Other (OTH) AF: 0.550 AC: 1156 AN: 2102

Alfa AF: 0.501 Hom.: 41360

Bravo AF: 0.582

Asia WGS AF: 0.659 AC: 2292 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.43
DANN	Benign	0.71
PhyloP100		-1.5
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: rs1713423; hg19: chr14-20860073;