rs7593730

Variant names:

• chr2-160314943-T-C
• rs7593730
• NM_016836.4:c.311-1696A>G

Variant summary

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

The NM_016836.4(RBMS1):​c.311-1696A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.75 in 152,068 control chromosomes in the GnomAD database, including 43,503 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 0.75 (43503 hom., cov: 32)
• Consequence: RBMS1 NM_016836.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0120
• Publications: 113 publications found

Genes affected

RBMS1 (HGNC:9907): (RNA binding motif single stranded interacting protein 1) This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.815 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
RBMS1	NM_016836.4	c.311-1696A>G		intron_variant	Intron 3 of 13	ENST00000348849.8	NP_058520.1
RBMS1	NM_002897.5	c.311-1696A>G		intron_variant	Intron 3 of 13		NP_002888.1
RBMS1	XM_047445368.1	c.311-1696A>G		intron_variant	Intron 3 of 13		XP_047301324.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RBMS1	ENST00000348849.8	c.311-1696A>G		intron_variant	Intron 3 of 13	1	NM_016836.4	ENSP00000294904.6

Frequencies

GnomAD3 genomes AF: 0.750 AC: 114008 AN: 151952 Hom.: 43471 Cov.: 32

Gnomad AFR AF: 0.624

Gnomad AMI AF: 0.794

Gnomad AMR AF: 0.821

Gnomad ASJ AF: 0.699

Gnomad EAS AF: 0.836

Gnomad SAS AF: 0.802

Gnomad FIN AF: 0.833

Gnomad MID AF: 0.810

Gnomad NFE AF: 0.790

Gnomad OTH AF: 0.765

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.750 AC: 114089 AN: 152068 Hom.: 43503 Cov.: 32 AF XY: 0.755 AC XY: 56113 AN XY: 74364

African (AFR) AF: 0.624 AC: 25863 AN: 41438

American (AMR) AF: 0.821 AC: 12553 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.699 AC: 2425 AN: 3470

East Asian (EAS) AF: 0.836 AC: 4325 AN: 5176

South Asian (SAS) AF: 0.801 AC: 3868 AN: 4826

European-Finnish (FIN) AF: 0.833 AC: 8810 AN: 10582

Middle Eastern (MID) AF: 0.806 AC: 237 AN: 294

European-Non Finnish (NFE) AF: 0.789 AC: 53671 AN: 67982

Other (OTH) AF: 0.767 AC: 1616 AN: 2108

Alfa AF: 0.778 Hom.: 141607

Bravo AF: 0.746

Asia WGS AF: 0.832 AC: 2890 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	6.0
DANN	Benign	0.53
PhyloP100		-0.012
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: rs7593730; hg19: chr2-161171454;