14-103137233-G-T

Position:

• chr14-103137233-G-T

Variant summary

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

The NM_006291.4(TNFAIP2):​c.*1873G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.148 in 152,318 control chromosomes in the GnomAD database, including 2,098 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 0.15 (2098 hom., cov: 33)
  • Exomes 𝑓: 0.085 (0 hom.)
• Consequence: TNFAIP2 NM_006291.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0840

Genes affected

TNFAIP2 (HGNC:11895): (TNF alpha induced protein 2) This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.26 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TNFAIP2	NM_006291.4	c.*1873G>T		3_prime_UTR_variant	12/12	ENST00000560869.6	NP_006282.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TNFAIP2	ENST00000560869.6	c.*1873G>T		3_prime_UTR_variant	12/12	5	NM_006291.4	ENSP00000452634	P1
TNFAIP2	ENST00000333007.8	c.*1873G>T		3_prime_UTR_variant	13/13	1		ENSP00000332326	P1
TNFAIP2	ENST00000561217.1	n.404G>T		non_coding_transcript_exon_variant	2/2	3

Frequencies

GnomAD3 genomes AF: 0.148 AC: 22451 AN: 152058 Hom.: 2096 Cov.: 33

Gnomad AFR AF: 0.264

Gnomad AMI AF: 0.0658

Gnomad AMR AF: 0.115

Gnomad ASJ AF: 0.124

Gnomad EAS AF: 0.000965

Gnomad SAS AF: 0.0803

Gnomad FIN AF: 0.0931

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.112

Gnomad OTH AF: 0.128

GnomAD4 exome AF: 0.0845 AC: 12 AN: 142 Hom.: 0 Cov.: 0 AF XY: 0.0750 AC XY: 6 AN XY: 80

Gnomad4 AFR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.143

Gnomad4 NFE exome AF: 0.0889

Gnomad4 OTH exome AF: 0.143

GnomAD4 genome AF: 0.148 AC: 22483 AN: 152176 Hom.: 2098 Cov.: 33 AF XY: 0.145 AC XY: 10782 AN XY: 74412

Gnomad4 AFR AF: 0.264

Gnomad4 AMR AF: 0.115

Gnomad4 ASJ AF: 0.124

Gnomad4 EAS AF: 0.000967

Gnomad4 SAS AF: 0.0803

Gnomad4 FIN AF: 0.0931

Gnomad4 NFE AF: 0.112

Gnomad4 OTH AF: 0.127

Alfa AF: 0.129 Hom.: 341

Bravo AF: 0.154

Asia WGS AF: 0.0460 AC: 163 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.3
DANN	Benign	0.83

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

Publications

LitVar

Other links and lift over

dbSNP: rs1052823; hg19: chr14-103603570;