rs367569

Variant names:

• chr16-11271643-C-T
• rs367569
• ENST00000572173.1:c.-516+21865C>T

Variant summary

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

The ENST00000572173.1(RMI2):​c.-516+21865C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.315 in 151,982 control chromosomes in the GnomAD database, including 7,907 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 0.31 (7907 hom., cov: 32)
• Consequence: RMI2 ENST00000572173.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0170
• Publications: 31 publications found

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

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.383 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105371082	XR_933070.4	n.178+21865C>T		intron_variant	Intron 1 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RMI2	ENST00000572173.1	c.-516+21865C>T		intron_variant	Intron 1 of 4	1		ENSP00000461206.1
RMI2	ENST00000573910.1	n.160+21865C>T		intron_variant	Intron 1 of 1	3
RMI2	ENST00000649869.1	n.152+21865C>T		intron_variant	Intron 1 of 2

Frequencies

GnomAD3 genomes AF: 0.314 AC: 47738 AN: 151864 Hom.: 7881 Cov.: 32

Gnomad AFR AF: 0.369

Gnomad AMI AF: 0.256

Gnomad AMR AF: 0.390

Gnomad ASJ AF: 0.333

Gnomad EAS AF: 0.143

Gnomad SAS AF: 0.299

Gnomad FIN AF: 0.291

Gnomad MID AF: 0.203

Gnomad NFE AF: 0.283

Gnomad OTH AF: 0.291

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

GnomAD4 genome AF: 0.315 AC: 47824 AN: 151982 Hom.: 7907 Cov.: 32 AF XY: 0.314 AC XY: 23364 AN XY: 74294

African (AFR) AF: 0.369 AC: 15281 AN: 41422

American (AMR) AF: 0.391 AC: 5976 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.333 AC: 1154 AN: 3466

East Asian (EAS) AF: 0.143 AC: 736 AN: 5164

South Asian (SAS) AF: 0.300 AC: 1446 AN: 4818

European-Finnish (FIN) AF: 0.291 AC: 3074 AN: 10576

Middle Eastern (MID) AF: 0.207 AC: 61 AN: 294

European-Non Finnish (NFE) AF: 0.283 AC: 19240 AN: 67950

Other (OTH) AF: 0.295 AC: 623 AN: 2112

Alfa AF: 0.312 Hom.: 4597

Bravo AF: 0.330

Asia WGS AF: 0.269 AC: 936 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.8
DANN	Benign	0.60
PhyloP100		0.017
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs367569; hg19: chr16-11365500;