6-41336093-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_004828.4(NCR2):c.59A>G(p.Gln20Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00176 in 1,612,746 control chromosomes in the GnomAD database, including 31 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0075 ( 13 hom., cov: 32)
Exomes 𝑓: 0.0012 ( 18 hom. )
Consequence
NCR2
NM_004828.4 missense
NM_004828.4 missense
Scores
17
Clinical Significance
Conservation
PhyloP100: -0.188
Genes affected
NCR2 (HGNC:6732): (natural cytotoxicity triggering receptor 2) Predicted to enable signaling receptor activity. Predicted to be involved in cellular defense response and signal transduction. Predicted to be located in plasma membrane. Predicted to be integral component of plasma membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.0037223399).
BP6
?
Variant 6-41336093-A-G is Benign according to our data. Variant chr6-41336093-A-G is described in ClinVar as [Benign]. Clinvar id is 714313.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00748 (1139/152290) while in subpopulation AFR AF= 0.0244 (1014/41566). AF 95% confidence interval is 0.0231. There are 13 homozygotes in gnomad4. There are 537 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 13 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NCR2 | NM_004828.4 | c.59A>G | p.Gln20Arg | missense_variant | 2/5 | ENST00000373089.10 | |
NCR2 | NM_001199509.2 | c.59A>G | p.Gln20Arg | missense_variant | 2/6 | ||
NCR2 | NM_001199510.2 | c.59A>G | p.Gln20Arg | missense_variant | 2/6 | ||
NCR2 | XM_017011500.2 | c.83A>G | p.Gln28Arg | missense_variant | 2/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NCR2 | ENST00000373089.10 | c.59A>G | p.Gln20Arg | missense_variant | 2/5 | 1 | NM_004828.4 | P2 | |
NCR2 | ENST00000373086.3 | c.59A>G | p.Gln20Arg | missense_variant | 2/6 | 1 | A2 | ||
NCR2 | ENST00000373083.8 | c.59A>G | p.Gln20Arg | missense_variant | 2/6 | 1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00747 AC: 1137AN: 152172Hom.: 13 Cov.: 32
GnomAD3 genomes
?
AF:
AC:
1137
AN:
152172
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD3 exomes AF: 0.00219 AC: 549AN: 250306Hom.: 12 AF XY: 0.00154 AC XY: 208AN XY: 135212
GnomAD3 exomes
AF:
AC:
549
AN:
250306
Hom.:
AF XY:
AC XY:
208
AN XY:
135212
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad SAS exome
AF:
Gnomad FIN exome
AF:
Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 0.00116 AC: 1695AN: 1460456Hom.: 18 Cov.: 34 AF XY: 0.00104 AC XY: 756AN XY: 726316
GnomAD4 exome
AF:
AC:
1695
AN:
1460456
Hom.:
Cov.:
34
AF XY:
AC XY:
756
AN XY:
726316
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome ? AF: 0.00748 AC: 1139AN: 152290Hom.: 13 Cov.: 32 AF XY: 0.00721 AC XY: 537AN XY: 74464
GnomAD4 genome
?
AF:
AC:
1139
AN:
152290
Hom.:
Cov.:
32
AF XY:
AC XY:
537
AN XY:
74464
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
TwinsUK
AF:
AC:
2
ALSPAC
AF:
AC:
0
ESP6500AA
AF:
AC:
119
ESP6500EA
AF:
AC:
3
ExAC
?
AF:
AC:
300
Asia WGS
AF:
AC:
9
AN:
3478
EpiCase
AF:
EpiControl
AF:
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 13, 2018 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
T;T;T
MetaRNN
Benign
T;T;T
MetaSVM
Benign
T
MutationAssessor
Benign
N;N;N
MutationTaster
Benign
N;N;N
PrimateAI
Benign
T
PROVEAN
Benign
N;N;N
REVEL
Benign
Sift
Benign
T;T;T
Sift4G
Benign
T;T;T
Polyphen
P;P;P
Vest4
MVP
MPC
0.15
ClinPred
T
GERP RS
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at