rs7309
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001199135.3(TANK):c.*611G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.427 in 149,948 control chromosomes in the GnomAD database, including 14,328 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 0.43 ( 14327 hom., cov: 29)
Exomes 𝑓: 1.0 ( 1 hom. )
Consequence
TANK
NM_001199135.3 3_prime_UTR
NM_001199135.3 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.90
Genes affected
TANK (HGNC:11562): (TRAF family member associated NFKB activator) The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
BA1
?
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.539 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TANK | NM_001199135.3 | c.*611G>A | 3_prime_UTR_variant | 8/8 | ENST00000392749.7 | ||
PSMD14-DT | NR_110593.1 | n.348+12395C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TANK | ENST00000392749.7 | c.*611G>A | 3_prime_UTR_variant | 8/8 | 1 | NM_001199135.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.427 AC: 63945AN: 149840Hom.: 14323 Cov.: 29
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GnomAD4 exome AF: 1.00 AC: 2AN: 2Hom.: 1 Cov.: 0 AF XY: 1.00 AC XY: 2AN XY: 2
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GnomAD4 genome ? AF: 0.427 AC: 63960AN: 149946Hom.: 14327 Cov.: 29 AF XY: 0.428 AC XY: 31292AN XY: 73124
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at