1-204151735-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018208.4(ETNK2):āc.118C>Gā(p.Arg40Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000189 in 1,533,886 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_018208.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ETNK2 | NM_018208.4 | c.118C>G | p.Arg40Gly | missense_variant | 1/8 | ENST00000367202.9 | NP_060678.2 | |
ETNK2 | NM_001297760.2 | c.118C>G | p.Arg40Gly | missense_variant | 1/8 | NP_001284689.1 | ||
ETNK2 | NM_001297762.2 | c.118C>G | p.Arg40Gly | missense_variant | 1/7 | NP_001284691.1 | ||
ETNK2 | NM_001297761.2 | c.-157C>G | 5_prime_UTR_variant | 1/7 | NP_001284690.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ETNK2 | ENST00000367202.9 | c.118C>G | p.Arg40Gly | missense_variant | 1/8 | 1 | NM_018208.4 | ENSP00000356170 | P1 | |
ETNK2 | ENST00000367201.7 | c.118C>G | p.Arg40Gly | missense_variant | 1/8 | 2 | ENSP00000356169 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000237 AC: 3AN: 126564Hom.: 0 AF XY: 0.0000145 AC XY: 1AN XY: 69042
GnomAD4 exome AF: 0.0000195 AC: 27AN: 1381776Hom.: 0 Cov.: 30 AF XY: 0.0000235 AC XY: 16AN XY: 681244
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 26, 2022 | The c.118C>G (p.R40G) alteration is located in exon 1 (coding exon 1) of the ETNK2 gene. This alteration results from a C to G substitution at nucleotide position 118, causing the arginine (R) at amino acid position 40 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at