chr19-48450520-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031485.4(GRWD1):c.676G>A(p.Val226Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000328 in 1,613,994 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031485.4 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 |
---|---|---|---|---|---|---|---|
GRWD1 | NM_031485.4 | c.676G>A | p.Val226Met | missense_variant | 4/7 | ENST00000253237.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRWD1 | ENST00000253237.10 | c.676G>A | p.Val226Met | missense_variant | 4/7 | 1 | NM_031485.4 | P1 | |
GRWD1 | ENST00000598711.1 | c.367G>A | p.Val123Met | missense_variant | 4/6 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000197 AC: 30AN: 152222Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000598 AC: 15AN: 250804Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135666
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461772Hom.: 0 Cov.: 33 AF XY: 0.0000151 AC XY: 11AN XY: 727198
GnomAD4 genome ? AF: 0.000197 AC: 30AN: 152222Hom.: 0 Cov.: 31 AF XY: 0.000148 AC XY: 11AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2022 | The c.676G>A (p.V226M) alteration is located in exon 4 (coding exon 4) of the GRWD1 gene. This alteration results from a G to A substitution at nucleotide position 676, causing the valine (V) at amino acid position 226 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