rs2301751

Variant names:

• chr6-30071707-C-A
• rs2301751
• NM_025236.4:c.479-16G>T

Your query was ambiguous. Multiple possible variants found:

• chr6-30071707-C-A
• chr6-30071707-C-G
• chr6-30071707-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_025236.4(RNF39):​c.479-16G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: RNF39 NM_025236.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.27
• Publications: 0 publications found

Genes affected

RNF39 (HGNC:18064): (ring finger protein 39) This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
RNF39	NM_025236.4	c.479-16G>T		intron_variant	Intron 3 of 3	ENST00000244360.8	NP_079512.3
RNF39	NM_170769.3	c.479-16G>T		intron_variant	Intron 3 of 4		NP_739575.3
RNF39	XM_017011325.2	c.224-16G>T		intron_variant	Intron 2 of 2		XP_016866814.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RNF39	ENST00000244360.8	c.479-16G>T		intron_variant	Intron 3 of 3	1	NM_025236.4	ENSP00000244360.7
RNF39	ENST00000376751.8	c.479-16G>T		intron_variant	Intron 3 of 4	1		ENSP00000365942.4

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 1245180 Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0 AN XY: 603392

African (AFR) AF: 0.00 AC: 0 AN: 24566

American (AMR) AF: 0.00 AC: 0 AN: 15950

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 17682

East Asian (EAS) AF: 0.00 AC: 0 AN: 29136

South Asian (SAS) AF: 0.00 AC: 0 AN: 59740

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 29592

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 3802

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 1013168

Other (OTH) AF: 0.00 AC: 0 AN: 51544

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	2.3
DANN	Benign	0.78
PhyloP100		-1.3

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: rs2301751; hg19: chr6-30039484;