7-139453646-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198508.4(KLRG2):c.1171C>G(p.Leu391Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,582 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198508.4 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 | UniProt |
---|---|---|---|---|---|---|---|
KLRG2 | NM_198508.4 | c.1171C>G | p.Leu391Val | missense_variant | 5/5 | ENST00000340940.5 | |
KLRG2 | XM_005250311.4 | c.*53C>G | 3_prime_UTR_variant | 4/4 | |||
KLRG2 | XM_011516141.3 | c.1005+25981C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLRG2 | ENST00000340940.5 | c.1171C>G | p.Leu391Val | missense_variant | 5/5 | 1 | NM_198508.4 | P1 | |
KLRG2 | ENST00000393039.2 | c.819C>G | p.Arg273= | synonymous_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461582Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727074
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 20, 2023 | The c.1171C>G (p.L391V) alteration is located in exon 5 (coding exon 5) of the KLRG2 gene. This alteration results from a C to G substitution at nucleotide position 1171, causing the leucine (L) at amino acid position 391 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.