chr19-51371824-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005601.4(NKG7):c.451C>A(p.Leu151Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,684 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005601.4 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 |
---|---|---|---|---|---|---|---|
NKG7 | NM_005601.4 | c.451C>A | p.Leu151Met | missense_variant | 4/4 | ENST00000221978.10 | |
NKG7 | XM_005258955.4 | c.346C>A | p.Leu116Met | missense_variant | 4/4 | ||
NKG7 | XM_006723228.4 | c.304C>A | p.Leu102Met | missense_variant | 3/3 | ||
NKG7 | NM_001363693.2 | c.*3C>A | 3_prime_UTR_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NKG7 | ENST00000221978.10 | c.451C>A | p.Leu151Met | missense_variant | 4/4 | 1 | NM_005601.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460684Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726474
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 30, 2023 | The c.451C>A (p.L151M) alteration is located in exon 4 (coding exon 4) of the NKG7 gene. This alteration results from a C to A substitution at nucleotide position 451, causing the leucine (L) at amino acid position 151 to be replaced by a methionine (M). 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.