rs6767890

Positions:

• chr3-16466550-A-G

Variant summary

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

The NM_015150.2(RFTN1):​c.145+27175T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.178 in 152,100 control chromosomes in the GnomAD database, including 2,693 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 0.18 (2693 hom., cov: 32)
• Consequence: RFTN1 NM_015150.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.31

Genes affected

RFTN1 (HGNC:30278): (raftlin, lipid raft linker 1) Enables double-stranded RNA binding activity. Involved in B cell receptor signaling pathway; membrane raft assembly; and positive regulation of growth rate. Acts upstream of or within dsRNA transport; response to exogenous dsRNA; and toll-like receptor 3 signaling pathway. Located in endosome; membrane raft; and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.247 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
RFTN1	NM_015150.2	c.145+27175T>C		intron_variant		ENST00000334133.9	NP_055965.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
RFTN1	ENST00000334133.9	c.145+27175T>C		intron_variant		1	NM_015150.2	ENSP00000334153	P1

Frequencies

GnomAD3 genomes AF: 0.178 AC: 26985 AN: 151982 Hom.: 2677 Cov.: 32

Gnomad AFR AF: 0.250

Gnomad AMI AF: 0.143

Gnomad AMR AF: 0.130

Gnomad ASJ AF: 0.177

Gnomad EAS AF: 0.259

Gnomad SAS AF: 0.121

Gnomad FIN AF: 0.187

Gnomad MID AF: 0.174

Gnomad NFE AF: 0.141

Gnomad OTH AF: 0.168

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

GnomAD4 genome AF: 0.178 AC: 27054 AN: 152100 Hom.: 2693 Cov.: 32 AF XY: 0.177 AC XY: 13155 AN XY: 74356

Gnomad4 AFR AF: 0.251

Gnomad4 AMR AF: 0.130

Gnomad4 ASJ AF: 0.177

Gnomad4 EAS AF: 0.259

Gnomad4 SAS AF: 0.122

Gnomad4 FIN AF: 0.187

Gnomad4 NFE AF: 0.141

Gnomad4 OTH AF: 0.169

Alfa AF: 0.147 Hom.: 3548

Bravo AF: 0.178

Asia WGS AF: 0.228 AC: 795 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.52
DANN	Benign	0.39

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.030		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

Other links and lift over

dbSNP: rs6767890; hg19: chr3-16508057;