chr7-81702663-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000601.6(HGF):c.2105G>A(p.Arg702His) variant causes a missense change. The variant allele was found at a frequency of 0.00000497 in 1,611,210 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000601.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HGF | ENST00000222390.11 | c.2105G>A | p.Arg702His | missense_variant | Exon 18 of 18 | 1 | NM_000601.6 | ENSP00000222390.5 | ||
HGF | ENST00000457544.7 | c.2090G>A | p.Arg697His | missense_variant | Exon 18 of 18 | 1 | ENSP00000391238.2 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151412Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250314Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135284
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459798Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 726246
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151412Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 73946
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at