rs4971100

Variant names:

• chr1-155183255-G-A
• rs4971100
• NM_025058.5:c.1887-542G>A

Your query was ambiguous. Multiple possible variants found:

• chr1-155183255-G-A
• chr1-155183255-G-C

Variant summary

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

The NM_025058.5(TRIM46):​c.1887-542G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.402 in 151,620 control chromosomes in the GnomAD database, including 13,269 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 0.40 (13269 hom., cov: 29)
• Consequence: TRIM46 NM_025058.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.09
• Publications: 37 publications found

Genes affected

TRIM46 (HGNC:19019): (tripartite motif containing 46) This gene encodes a protein of the tripartite motif (TRIM) family. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. TRIM46 is reported to be involved in the proliferation of multiple types of cancer cells including lung and breast cancer. It has also been shown to control neuronal polarity and axon specification by forming uniform microtubule bundles in the axon. [provided by RefSeq, May 2022]

ENSG00000273088 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.732 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_025058.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TRIM46	NM_025058.5	MANE Select	c.1887-542G>A		intron	N/A	NP_079334.3
	TRIM46	NM_001406245.1		c.1974-542G>A		intron	N/A	NP_001393174.1
	TRIM46	NM_001256601.1		c.1848-542G>A		intron	N/A	NP_001243530.1	Q7Z4K8

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TRIM46	ENST00000334634.9	TSL:1 MANE Select	c.1887-542G>A		intron	N/A	ENSP00000334657.4	Q7Z4K8-1
	TRIM46	ENST00000611379.1	TSL:1	c.1848-542G>A		intron	N/A	ENSP00000478669.1	A0A087WUH1
	ENSG00000273088	ENST00000473363.3	TSL:5	c.48+3970C>T		intron	N/A	ENSP00000477381.3	V9GZ38

Frequencies

GnomAD3 genomes AF: 0.402 AC: 60916 AN: 151502 Hom.: 13273 Cov.: 29

Gnomad AFR AF: 0.247

Gnomad AMI AF: 0.309

Gnomad AMR AF: 0.534

Gnomad ASJ AF: 0.390

Gnomad EAS AF: 0.753

Gnomad SAS AF: 0.464

Gnomad FIN AF: 0.507

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.421

Gnomad OTH AF: 0.420

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

GnomAD4 genome AF: 0.402 AC: 60920 AN: 151620 Hom.: 13269 Cov.: 29 AF XY: 0.411 AC XY: 30421 AN XY: 74066

African (AFR) AF: 0.247 AC: 10187 AN: 41292

American (AMR) AF: 0.534 AC: 8145 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.390 AC: 1355 AN: 3470

East Asian (EAS) AF: 0.752 AC: 3854 AN: 5124

South Asian (SAS) AF: 0.462 AC: 2224 AN: 4814

European-Finnish (FIN) AF: 0.507 AC: 5316 AN: 10482

Middle Eastern (MID) AF: 0.422 AC: 124 AN: 294

European-Non Finnish (NFE) AF: 0.421 AC: 28566 AN: 67888

Other (OTH) AF: 0.414 AC: 868 AN: 2098

Alfa AF: 0.423 Hom.: 11100

Bravo AF: 0.404

Asia WGS AF: 0.543 AC: 1890 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.56
DANN	Benign	0.74
PhyloP100		-1.1
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: rs4971100; hg19: chr1-155155731;