10-109865273-C-T

Variant summary

Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP6

The ENST00000502935.6(XPNPEP1):​c.1912G>A​(p.Val638Met) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).

Frequency

Genomes: not found (cov: 32)

Consequence

XPNPEP1
ENST00000502935.6 missense

Scores

1
6
9

Clinical Significance

Likely benign no assertion criteria provided B:1

Conservation

PhyloP100: 4.51
Variant links:
Genes affected
XPNPEP1 (HGNC:12822): (X-prolyl aminopeptidase 1) This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]

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ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -1 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.26175123).
BP6
Variant 10-109865273-C-T is Benign according to our data. Variant chr10-109865273-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 2681649.Status of the report is no_assertion_criteria_provided, 0 stars.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
XPNPEP1NM_020383.4 linkuse as main transcriptc.1912G>A p.Val638Met missense_variant 21/21 ENST00000502935.6 NP_065116.3

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
XPNPEP1ENST00000502935.6 linkuse as main transcriptc.1912G>A p.Val638Met missense_variant 21/211 NM_020383.4 ENSP00000421566 P1Q9NQW7-3

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
Cov.:
29
GnomAD4 genome
Cov.:
32

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: no assertion criteria provided
LINK: link

Submissions by phenotype

EBV-positive nodal T- and NK-cell lymphoma Benign:1
Likely benign, no assertion criteria providedresearchDepartment of Clinical Pathology, School of Medicine, Fujita Health University-- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_addAF
Uncertain
0.043
T
BayesDel_noAF
Benign
-0.18
CADD
Pathogenic
26
DANN
Uncertain
1.0
Eigen
Uncertain
0.51
Eigen_PC
Uncertain
0.53
FATHMM_MKL
Pathogenic
0.98
D
LIST_S2
Uncertain
0.96
D;D;D
M_CAP
Benign
0.0059
T
MetaRNN
Benign
0.26
T;T;T
MetaSVM
Benign
-0.55
T
MutationTaster
Benign
0.98
D;D;D;D
PrimateAI
Uncertain
0.58
T
PROVEAN
Benign
-1.1
N;N;N
REVEL
Benign
0.068
Sift
Benign
0.077
T;T;T
Sift4G
Benign
0.11
T;T;T
Vest4
0.48
MVP
0.12
MPC
1.0
ClinPred
0.87
D
GERP RS
5.1
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.1
gMVP
0.65

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

No publications associated with this variant yet.

Other links and lift over

hg19: chr10-111625031; API