4-99419054-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000673.7(ADH7):c.893C>T(p.Ala298Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,578 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_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.893C>T | p.Ala298Val | missense_variant | 7/9 | ENST00000437033.7 | |
ADH7 | NM_001166504.2 | c.953C>T | p.Ala318Val | missense_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADH7 | ENST00000437033.7 | c.893C>T | p.Ala298Val | missense_variant | 7/9 | 1 | NM_000673.7 | P1 | |
ADH7 | ENST00000209665.8 | c.929C>T | p.Ala310Val | missense_variant | 7/9 | 1 | |||
ADH7 | ENST00000476959.5 | c.953C>T | p.Ala318Val | missense_variant | 7/9 | 2 | |||
ADH7 | ENST00000482593.5 | c.722C>T | p.Ala241Val | missense_variant | 8/10 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251054Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135670
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461578Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727092
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.929C>T (p.A310V) alteration is located in exon 7 (coding exon 7) of the ADH7 gene. This alteration results from a C to T substitution at nucleotide position 929, causing the alanine (A) at amino acid position 310 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
ADH7-related disorder Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 18, 2024 | The ADH7 c.953C>T variant is predicted to result in the amino acid substitution p.Ala318Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at