chr4-99419073-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000673.7(ADH7):c.874G>A(p.Val292Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,613,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000673.7 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 |
---|---|---|---|---|---|---|---|
ADH7 | NM_000673.7 | c.874G>A | p.Val292Ile | missense_variant | 7/9 | ENST00000437033.7 | |
ADH7 | NM_001166504.2 | c.934G>A | p.Val312Ile | missense_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADH7 | ENST00000437033.7 | c.874G>A | p.Val292Ile | missense_variant | 7/9 | 1 | NM_000673.7 | P1 | |
ADH7 | ENST00000209665.8 | c.910G>A | p.Val304Ile | missense_variant | 7/9 | 1 | |||
ADH7 | ENST00000476959.5 | c.934G>A | p.Val312Ile | missense_variant | 7/9 | 2 | |||
ADH7 | ENST00000482593.5 | c.703G>A | p.Val235Ile | missense_variant | 8/10 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250964Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135630
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461532Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 727074
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152340Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 07, 2022 | The c.910G>A (p.V304I) alteration is located in exon 7 (coding exon 7) of the ADH7 gene. This alteration results from a G to A substitution at nucleotide position 910, causing the valine (V) at amino acid position 304 to be replaced by an isoleucine (I). 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