chrX-80442930-G-A
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Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_152630.5(TENT5D):c.391G>A(p.Val131Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000422 in 1,209,620 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 12 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.000063 ( 0 hom., 1 hem., cov: 23)
Exomes 𝑓: 0.000040 ( 0 hom. 11 hem. )
Consequence
TENT5D
NM_152630.5 missense
NM_152630.5 missense
Scores
1
3
12
Clinical Significance
Conservation
PhyloP100: 9.60
Genes affected
TENT5D (HGNC:28399): (terminal nucleotidyltransferase 5D) Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. [provided by RefSeq, Dec 2009]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -6 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.19083214).
BS2
High Hemizygotes in GnomAdExome4 at 11 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TENT5D | NM_152630.5 | c.391G>A | p.Val131Ile | missense_variant | 3/3 | ENST00000308293.6 | |
TENT5D | NM_001170574.2 | c.391G>A | p.Val131Ile | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TENT5D | ENST00000308293.6 | c.391G>A | p.Val131Ile | missense_variant | 3/3 | 1 | NM_152630.5 | P1 | |
TENT5D | ENST00000538312.5 | c.391G>A | p.Val131Ile | missense_variant | 5/5 | 2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000627 AC: 7AN: 111715Hom.: 0 Cov.: 23 AF XY: 0.0000294 AC XY: 1AN XY: 33991
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GnomAD3 exomes AF: 0.0000657 AC: 12AN: 182720Hom.: 0 AF XY: 0.0000296 AC XY: 2AN XY: 67488
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GnomAD4 exome AF: 0.0000401 AC: 44AN: 1097853Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 11AN XY: 363407
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GnomAD4 genome AF: 0.0000626 AC: 7AN: 111767Hom.: 0 Cov.: 23 AF XY: 0.0000294 AC XY: 1AN XY: 34053
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 01, 2021 | The c.391G>A (p.V131I) alteration is located in exon 5 (coding exon 1) of the FAM46D gene. This alteration results from a G to A substitution at nucleotide position 391, causing the valine (V) at amino acid position 131 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
DEOGEN2
Benign
T;T
FATHMM_MKL
Pathogenic
D
LIST_S2
Uncertain
D;.
M_CAP
Benign
T
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationTaster
Benign
D;D
PrimateAI
Uncertain
T
PROVEAN
Benign
N;N
REVEL
Benign
Sift
Benign
T;T
Sift4G
Benign
T;T
Polyphen
D;D
Vest4
MVP
MPC
ClinPred
T
GERP RS
Varity_R
gMVP
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