rs367790106

Variant names:

• chrX-47169510-G-A
• rs367790106
• NM_005676.5:c.201+12G>A

Your query was ambiguous. Multiple possible variants found:

• chrX-47169510-G-A
• chrX-47169510-G-T

Variant summary

Our verdict is Benign. The variant received -16 ACMG points: 0P and 16B. BP4_Strong BP6_Very_Strong BS2

The NM_005676.5(RBM10):​c.201+12G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000238 in 1,197,799 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 92 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).

• Frequency:
  • Genomes: 𝑓 0.00016 (0 hom., 5 hem., cov: 24)
  • Exomes 𝑓: 0.00025 (0 hom. 87 hem.)
• Consequence: RBM10 NM_005676.5 intron
• Clinical Significance: Benign/Likely benign criteria provided, multiple submitters, no conflicts B:2
• Conservation: PhyloP100: 3.02
• Publications: 0 publications found

Genes affected

RBM10 (HGNC:9896): (RNA binding motif protein 10) This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]

RBM10 Gene-Disease associations (from GenCC):

• TARP syndrome

  Inheritance: XL Classification: STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae)

ACMG classification

Our verdict: Benign. The variant received -16 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BP6: Variant X-47169510-G-A is Benign according to our data. Variant chrX-47169510-G-A is described in ClinVar as Benign/Likely_benign. ClinVar VariationId is 445338.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BS2: High Hemizygotes in GnomAd4 at 5 XL gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
RBM10	NM_005676.5	c.201+12G>A		intron_variant	Intron 3 of 23	ENST00000377604.8	NP_005667.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RBM10	ENST00000377604.8	c.201+12G>A		intron_variant	Intron 3 of 23	1	NM_005676.5	ENSP00000366829.3
RBM10	ENST00000329236.8	c.396+12G>A		intron_variant	Intron 3 of 23	1		ENSP00000328848.8
RBM10	ENST00000628161.2	c.201+12G>A		intron_variant	Intron 3 of 22	1		ENSP00000486115.1
RBM10	ENST00000345781.10	c.201+12G>A		intron_variant	Intron 3 of 22	2		ENSP00000329659.6

Frequencies

GnomAD3 genomes AF: 0.000159 AC: 18 AN: 113002 Hom.: 0 Cov.: 24

Gnomad AFR AF: 0.0000321

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000319

Gnomad OTH AF: 0.00

GnomAD2 exomes AF: 0.000229 AC: 36 AN: 157135 AF XY: 0.000144

Gnomad AFR exome AF: 0.000176

Gnomad AMR exome AF: 0.00

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.00

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.000501

Gnomad OTH exome AF: 0.00

GnomAD4 exome AF: 0.000246 AC: 267 AN: 1084797 Hom.: 0 Cov.: 30 AF XY: 0.000246 AC XY: 87 AN XY: 352955

African (AFR) AF: 0.0000382 AC: 1 AN: 26174

American (AMR) AF: 0.00 AC: 0 AN: 33516

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 19157

East Asian (EAS) AF: 0.00 AC: 0 AN: 29720

South Asian (SAS) AF: 0.00 AC: 0 AN: 52521

European-Finnish (FIN) AF: 0.0000255 AC: 1 AN: 39192

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 3295

European-Non Finnish (NFE) AF: 0.000311 AC: 260 AN: 835636

Other (OTH) AF: 0.000110 AC: 5 AN: 45586

GnomAD4 genome AF: 0.000159 AC: 18 AN: 113002 Hom.: 0 Cov.: 24 AF XY: 0.000142 AC XY: 5 AN XY: 35130

African (AFR) AF: 0.0000321 AC: 1 AN: 31170

American (AMR) AF: 0.00 AC: 0 AN: 10815

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 2654

East Asian (EAS) AF: 0.00 AC: 0 AN: 3553

South Asian (SAS) AF: 0.00 AC: 0 AN: 2760

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 6310

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 239

European-Non Finnish (NFE) AF: 0.000319 AC: 17 AN: 53288

Other (OTH) AF: 0.00 AC: 0 AN: 1533

Alfa AF: 0.000142 Hom.: 1

Bravo AF: 0.000144

ClinVar

Significance: Benign/Likely benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not provided Benign:2

Dec 16, 2024

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Jun 19, 2017

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	7.9
DANN	Benign	0.66
PhyloP100		3.0
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1
Mutation Taster		=100/0	polymorphism

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: rs367790106; hg19: chrX-47028909;