rs756510648

Variant names:

• chrX-103253832-G-A
• NM_153333.3:c.148C>T

Your query was ambiguous. Multiple possible variants found:

• chrX-103253832-G-A
• chrX-103253832-G-C
• chrX-103253832-G-T

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_153333.3(TCEAL8):​c.148C>T​(p.Pro50Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000911 in 1,098,261 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 23)
  • Exomes 𝑓: 9.1e-7 (0 hom. 1 hem.)
• Consequence: TCEAL8 NM_153333.3 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.40

Genes affected

TCEAL8 (HGNC:28683): (transcription elongation factor A like 8) This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.07900721).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TCEAL8	NM_153333.3	c.148C>T	p.Pro50Ser	missense_variant	Exon 3 of 3	ENST00000372685.8	NP_699164.1
TCEAL8	NM_001006684.2	c.148C>T	p.Pro50Ser	missense_variant	Exon 2 of 2		NP_001006685.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TCEAL8	ENST00000372685.8	c.148C>T	p.Pro50Ser	missense_variant	Exon 3 of 3	1	NM_153333.3	ENSP00000361770.3
TCEAL8	ENST00000360000.8	c.148C>T	p.Pro50Ser	missense_variant	Exon 2 of 2	1		ENSP00000353093.4
TCEAL8	ENST00000451678.1	c.91-42C>T		intron_variant	Intron 3 of 3	3		ENSP00000390880.1

Frequencies

GnomAD3 genomes Cov.: 23

GnomAD4 exome AF: 9.11e-7 AC: 1 AN: 1098261 Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 1 AN XY: 363615

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.0000185

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome Cov.: 23

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.092
BayesDel_addAF	Benign	-0.45	T
BayesDel_noAF	Benign	-0.89
CADD	Benign	14
DANN	Uncertain	0.99
DEOGEN2	Benign	0.0075	T;T
FATHMM_MKL	Benign	0.47	N
LIST_S2	Benign	0.74	.;T
M_CAP	Benign	0.0024	T
MetaRNN	Benign	0.079	T;T
MetaSVM	Benign	-0.99	T
MutationAssessor	Benign	-0.34	N;N
PrimateAI	Benign	0.24	T
PROVEAN	Benign	0.28	N;N
REVEL	Benign	0.065
Sift	Uncertain	0.017	D;D
Sift4G	Benign	0.46	T;T
Polyphen		0.0090	B;B
Vest4		0.15
MutPred		0.48		Gain of phosphorylation at P50 (P = 0.0124);Gain of phosphorylation at P50 (P = 0.0124);
MVP		0.11
MPC		0.43
ClinPred		0.21	T
GERP RS		4.4
Varity_R		0.094
gMVP		0.43

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

No publications associated with this variant yet.

Other links and lift over

hg19: chrX-102508760;