19-53050035-A-G

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate

The NM_001191055.2(ERVV-2):​c.784A>G​(p.Lys262Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict 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: 20)

Consequence

ERVV-2
NM_001191055.2 missense

Scores

12

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.652
Variant links:
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.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.08400658).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
ERVV-2NM_001191055.2 linkc.784A>G p.Lys262Glu missense_variant Exon 2 of 2 ENST00000601417.3 NP_001177984.1 B6SEH9M9QSX5

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ERVV-2ENST00000601417.3 linkc.784A>G p.Lys262Glu missense_variant Exon 2 of 2 4 NM_001191055.2 ENSP00000472919.1 B6SEH9

Frequencies

GnomAD3 genomes
Cov.:
20
GnomAD4 exome
Cov.:
32
GnomAD4 genome
Cov.:
20

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.14
BayesDel_addAF
Benign
-0.32
T
BayesDel_noAF
Benign
-0.70
CADD
Benign
1.2
DANN
Benign
0.12
DEOGEN2
Benign
0.0011
T
FATHMM_MKL
Benign
0.00089
N
LIST_S2
Benign
0.43
T
M_CAP
Benign
0.018
T
MetaRNN
Benign
0.084
T
MutationAssessor
Benign
1.0
L
PrimateAI
Benign
0.44
T
Sift4G
Benign
0.10
T
Vest4
0.17
MVP
0.030
GERP RS
-0.83
Varity_R
0.070
gMVP
0.36

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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1325914109; hg19: chr19-53553288; API