19-53050203-C-T
Variant names:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001191055.2(ERVV-2):c.952C>T(p.Gln318*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000067 ( 0 hom., cov: 22)
Exomes 𝑓: 0.000013 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ERVV-2
NM_001191055.2 stop_gained
NM_001191055.2 stop_gained
Scores
1
1
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.305
Genes affected
ERVV-2 (HGNC:39051): (endogenous retrovirus group V member 2, envelope) Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on human chromosome 19 that has inactivating mutations in the gag and pol genes. This envelope glycoprotein gene appears to have been selectively preserved. The gene's protein product is expressed in the placenta and acts as a syncytin in Old World monkeys, but has lost the fusogenic activity in humans and other primate lineages. [provided by RefSeq, Jun 2015]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 148708Hom.: 0 Cov.: 22 FAILED QC
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GnomAD4 exome AF: 0.0000125 AC: 13AN: 1036860Hom.: 0 Cov.: 15 AF XY: 0.0000115 AC XY: 6AN XY: 523574
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GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000672 AC: 1AN: 148708Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 72384
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Data not reliable, filtered out with message: AS_VQSR
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_addAF
Pathogenic
D
BayesDel_noAF
Uncertain
CADD
Pathogenic
DANN
Benign
FATHMM_MKL
Benign
N
Vest4
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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