Variant X-105219507-C-G details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2

The NM_031274.5(TEX13A):c.687G>C(p.Glu229Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000571 in 1,207,466 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 39 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: 𝑓 0.000054 ( 0 hom., 5 hem., cov: 22)

Exomes 𝑓: 0.000057 ( 0 hom. 34 hem. )

Consequence

TEX13A
NM_031274.5 missense

Scores

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.344

Variant links:

Genes affected

TEX13A (HGNC:11735): (testis expressed 13A) This gene is similar to a mouse gene that is expressed in the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

TEX13A links:

IL1RAPL2 (HGNC:5997): (interleukin 1 receptor accessory protein like 2) The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic cognitive disability. [provided by RefSeq, Jul 2008]

IL1RAPL2 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -10 ACMG points.

BP4

Computational evidence support a benign effect (MetaRNN=0.010829836).

BP6

Variant X-105219507-C-G is Benign according to our data. Variant chrX-105219507-C-G is described in ClinVar as [Likely_benign]. Clinvar id is 2661121.Status of the report is criteria_provided_single_submitter, 1 stars.

BS2

High Hemizygotes in GnomAd4 at 5 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TEX13A	NM_031274.5 linkuse as main transcript	c.687G>C	p.Glu229Asp	missense_variant	3/3	ENST00000600991.6	NP_112564.1	Q9BXU3
IL1RAPL2	NM_017416.2 linkuse as main transcript	c.357-14311C>G		intron_variant		ENST00000372582.6	NP_059112.1	Q9NP60
TEX13A	NM_001291277.2 linkuse as main transcript	c.687G>C	p.Glu229Asp	missense_variant	3/3		NP_001278206.1	Q9BXU3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	UniProt
TEX13A	ENST00000600991.6 linkuse as main transcript	c.687G>C	p.Glu229Asp	missense_variant	3/3	1	NM_031274.5	ENSP00000471604.2	Q9BXU3
TEX13A	ENST00000609007.3 linkuse as main transcript	c.687G>C	p.Glu229Asp	missense_variant	3/3	1		ENSP00000477478.2	Q9BXU3
IL1RAPL2	ENST00000372582.6 linkuse as main transcript	c.357-14311C>G		intron_variant		1	NM_017416.2	ENSP00000361663.1	Q9NP60

Frequencies

GnomAD3 genomes

AF:

0.0000541

AC:

AN:

110838

Hom.:

Cov.:

AF XY:

0.000151

AC XY:

AN XY:

33064

show subpopulations

Gnomad AFR

AF:

0.00

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00237

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.00

Gnomad OTH

AF:

0.00

GnomAD3 exomes

AF:

0.000135

AC:

AN:

177915

Hom.:

AF XY:

0.000232

AC XY:

AN XY:

64723

show subpopulations

Gnomad AFR exome

AF:

0.00

Gnomad AMR exome

AF:

0.00

Gnomad ASJ exome

AF:

0.00

Gnomad EAS exome

AF:

0.00

Gnomad SAS exome

AF:

0.00127

Gnomad FIN exome

AF:

0.00

Gnomad NFE exome

AF:

0.00

Gnomad OTH exome

AF:

0.00

GnomAD4 exome

AF:

0.0000575

AC:

AN:

1096577

Hom.:

Cov.:

AF XY:

0.0000938

AC XY:

AN XY:

362415

show subpopulations

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:

0.00105

Gnomad4 FIN exome

AF:

0.00

Gnomad4 NFE exome

AF:

0.00

Gnomad4 OTH exome

AF:

0.000130

GnomAD4 genome

AF:

0.0000541

AC:

AN:

110889

Hom.:

Cov.:

AF XY:

0.000151

AC XY:

AN XY:

33125

show subpopulations

Gnomad4 AFR

AF:

0.00

Gnomad4 AMR

AF:

0.00

Gnomad4 ASJ

AF:

0.00

Gnomad4 EAS

AF:

0.00

Gnomad4 SAS

AF:

0.00238

Gnomad4 FIN

AF:

0.00

Gnomad4 NFE

AF:

0.00

Gnomad4 OTH

AF:

0.00

Bravo

AF:

0.00000756

ExAC

AF:

0.000190

AC:

ClinVar

Significance: Likely benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Benign:1

Likely benign, criteria provided, single submitter

clinical testing

CeGaT Center for Human Genetics Tuebingen

Dec 01, 2022

IL1RAPL2: BS2; TEX13A: BP4, BS2 -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

AlphaMissense

Benign

0.13

BayesDel_addAF

Benign

-0.72

BayesDel_noAF

Benign

-0.85

CADD

Benign

6.2

DANN

Benign

0.92

DEOGEN2

Benign

0.017

T;T

FATHMM_MKL

Benign

0.012

LIST_S2

Benign

0.39

.;T

M_CAP

Benign

0.00075

MetaRNN

Benign

0.011

T;T

MetaSVM

Benign

-1.0

MutationAssessor

Benign

1.4

L;L

PrimateAI

Benign

0.41

Sift4G

Benign

0.12

T;T

Polyphen

0.88

P;P

Vest4

0.028

MutPred

0.14

Loss of helix (P = 0.0376);Loss of helix (P = 0.0376);

MVP

0.030

ClinPred

0.16

GERP RS

-2.2

Varity_R

0.075

gMVP

0.053

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.020

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

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over