X-70552182-G-C

Position:

• chrX-70552182-G-C

Variant summary

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

The NM_031276.3(TEX11):​c.2464C>G​(p.Pro822Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).

• Frequency: Genomes: not found (cov: 22)
• Consequence: TEX11 NM_031276.3 missense
• Clinical Significance: Uncertain significance criteria provided, single submitter U:1
• Conservation: PhyloP100: 0.849

Genes affected

TEX11 (HGNC:11733): (testis expressed 11) This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [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=0.12697431).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TEX11	NM_031276.3	c.2464C>G	p.Pro822Ala	missense_variant	28/30	ENST00000374333.7	NP_112566.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TEX11	ENST00000374333.7	c.2464C>G	p.Pro822Ala	missense_variant	28/30	1	NM_031276.3	ENSP00000363453	P2
TEX11	ENST00000344304.3	c.2509C>G	p.Pro837Ala	missense_variant	27/29	5		ENSP00000340995	A2
TEX11	ENST00000395889.6	c.2509C>G	p.Pro837Ala	missense_variant	29/31	2		ENSP00000379226	A2
TEX11	ENST00000374320.6	c.1534C>G	p.Pro512Ala	missense_variant	17/19	2		ENSP00000363440

Frequencies

GnomAD3 genomes Cov.: 22

GnomAD4 exome Cov.: 29

GnomAD4 genome Cov.: 22

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Uncertain:1

Uncertain significance, criteria provided, single submitter

clinical testing

CeGaT Center for Human Genetics Tuebingen

Feb 01, 2020

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.11
BayesDel_addAF	Benign	-0.28	T
BayesDel_noAF	Benign	-0.64
CADD	Benign	9.5
DANN	Benign	0.20
DEOGEN2	Benign	0.077	.;.;T;T
FATHMM_MKL	Benign	0.13	N
LIST_S2	Benign	0.75	T;T;T;.
M_CAP	Benign	0.084	D
MetaRNN	Benign	0.13	T;T;T;T
MetaSVM	Benign	-1.0	T
MutationAssessor	Benign	1.9	.;.;L;L
MutationTaster	Benign	1.0	N;N;N;N
PrimateAI	Benign	0.26	T
PROVEAN	Benign	-1.9	N;N;N;N
REVEL	Benign	0.044
Sift	Benign	0.31	T;T;T;T
Sift4G	Benign	0.52	T;T;T;T
Polyphen		0.97	D;.;P;P
Vest4		0.20
MutPred		0.40		.;.;Loss of loop (P = 0.0603);Loss of loop (P = 0.0603);
MVP		0.41
MPC		0.38
ClinPred		0.33	T
GERP RS		3.2
Varity_R		0.080
gMVP		0.13

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: rs2088223979; hg19: chrX-69772032;