rs1794019

chr16-11285918-T-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000572173.1(RMI2):c.-515-9298T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.128 in 152,274 control chromosomes in the GnomAD database, including 1,565 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 0.13 (1565 hom., cov: 33)
• Consequence: RMI2 ENST00000572173.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0780

Genes affected

RMI2 (HGNC:28349): (RecQ mediated genome instability 2) RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]

LOC105371082 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.19 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC105371082	XR_933070.4	n.178+36140T>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
RMI2	ENST00000572173.1	c.-515-9298T>C		intron_variant		1
RMI2	ENST00000573910.1	n.161-30534T>C		intron_variant, non_coding_transcript_variant		3
RMI2	ENST00000649869.1	n.152+36140T>C		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.128 AC: 19454 AN: 152156 Hom.: 1563 Cov.: 33

Gnomad AFR AF: 0.0345

Gnomad AMI AF: 0.182

Gnomad AMR AF: 0.102

Gnomad ASJ AF: 0.150

Gnomad EAS AF: 0.0465

Gnomad SAS AF: 0.124

Gnomad FIN AF: 0.150

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.193

Gnomad OTH AF: 0.115

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

GnomAD4 genome AF: 0.128 AC: 19458 AN: 152274 Hom.: 1565 Cov.: 33 AF XY: 0.124 AC XY: 9217 AN XY: 74460

Gnomad4 AFR AF: 0.0344

Gnomad4 AMR AF: 0.102

Gnomad4 ASJ AF: 0.150

Gnomad4 EAS AF: 0.0466

Gnomad4 SAS AF: 0.125

Gnomad4 FIN AF: 0.150

Gnomad4 NFE AF: 0.193

Gnomad4 OTH AF: 0.114

Alfa AF: 0.161 Hom.: 255

Bravo AF: 0.122

Asia WGS AF: 0.0740 AC: 258 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	2.1
Dann	Benign	0.30

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1794019; hg19: chr16-11379775;