rs2284165

Variant names:

• chr6-30192278-G-C
• rs2284165
• NM_003449.5:c.766-2243C>G

Your query was ambiguous. Multiple possible variants found:

• chr6-30192278-G-C
• chr6-30192278-G-T

Variant summary

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

The NM_003449.5(TRIM26):​c.766-2243C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.793 in 152,118 control chromosomes in the GnomAD database, including 48,052 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 0.79 (48052 hom., cov: 31)
• Consequence: TRIM26 NM_003449.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.43
• Publications: 16 publications found

Genes affected

TRIM26 (HGNC:12962): (tripartite motif containing 26) The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]

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 = 0.865 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TRIM26	NM_003449.5	c.766-2243C>G		intron_variant	Intron 6 of 9	ENST00000454678.7	NP_003440.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TRIM26	ENST00000454678.7	c.766-2243C>G		intron_variant	Intron 6 of 9	1	NM_003449.5	ENSP00000410446.2
TRIM26	ENST00000437089.5	c.766-2243C>G		intron_variant	Intron 5 of 8	1		ENSP00000395491.1
TRIM26	ENST00000453195.5	c.766-2243C>G		intron_variant	Intron 5 of 8	1		ENSP00000391879.1

Frequencies

GnomAD3 genomes AF: 0.793 AC: 120565 AN: 152000 Hom.: 48017 Cov.: 31

Gnomad AFR AF: 0.787

Gnomad AMI AF: 0.934

Gnomad AMR AF: 0.742

Gnomad ASJ AF: 0.855

Gnomad EAS AF: 0.887

Gnomad SAS AF: 0.861

Gnomad FIN AF: 0.759

Gnomad MID AF: 0.753

Gnomad NFE AF: 0.797

Gnomad OTH AF: 0.792

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

GnomAD4 genome AF: 0.793 AC: 120653 AN: 152118 Hom.: 48052 Cov.: 31 AF XY: 0.792 AC XY: 58854 AN XY: 74354

African (AFR) AF: 0.787 AC: 32686 AN: 41512

American (AMR) AF: 0.741 AC: 11333 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.855 AC: 2968 AN: 3472

East Asian (EAS) AF: 0.887 AC: 4568 AN: 5152

South Asian (SAS) AF: 0.860 AC: 4148 AN: 4824

European-Finnish (FIN) AF: 0.759 AC: 8036 AN: 10586

Middle Eastern (MID) AF: 0.762 AC: 224 AN: 294

European-Non Finnish (NFE) AF: 0.797 AC: 54163 AN: 67970

Other (OTH) AF: 0.794 AC: 1675 AN: 2110

Alfa AF: 0.803 Hom.: 27211

Bravo AF: 0.790

Asia WGS AF: 0.855 AC: 2975 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	0.17
DANN	Benign	0.47
PhyloP100		-1.4
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: rs2284165; hg19: chr6-30160055;