chr17-16933111-G-C

Variant names:

• chr17-16933111-G-C
• rs3751987
• ENST00000261651.6:n.1626C>G

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The ENST00000261651.6(ENSG00000290698):​n.1626C>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000185 in 541,606 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: 0.0000018 (0 hom.)
• Consequence: ENSG00000290698 ENST00000261651.6 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0430
• Publications: 0 publications found

Genes affected

ENSG00000290698 (HGNC:):

TNFRSF13B (HGNC:18153): (TNF receptor superfamily member 13B) The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

TBC1D27P (HGNC:28104): (TBC1 domain family member 27, pseudogene)

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (REVEL=0.125).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TBC1D27P	NR_147084.1	n.66C>G		non_coding_transcript_exon_variant	Exon 1 of 13

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000290698	ENST00000261651.6	n.1626C>G		non_coding_transcript_exon_variant	Exon 2 of 14	2
TNFRSF13B	ENST00000584950.5	n.701C>G		non_coding_transcript_exon_variant	Exon 5 of 10	5		ENSP00000463582.1
TNFRSF13B	ENST00000579315.5	c.*40C>G		3_prime_UTR_variant	Exon 4 of 4	3		ENSP00000464069.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome AF: 0.00000185 AC: 1 AN: 541606 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 293630

African (AFR) AF: 0.00 AC: 0 AN: 15290

American (AMR) AF: 0.00 AC: 0 AN: 32332

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 19692

East Asian (EAS) AF: 0.00 AC: 0 AN: 31648

South Asian (SAS) AF: 0.00 AC: 0 AN: 61078

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 33074

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 4036

European-Non Finnish (NFE) AF: 0.00000318 AC: 1 AN: 314270

Other (OTH) AF: 0.00 AC: 0 AN: 30186

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.084
BayesDel_noAF	Benign	-0.81
CADD	Benign	1.3
DANN	Benign	0.76
PhyloP100		0.043

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs3751987; hg19: chr17-16836425;