4-99419058-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000673.7(ADH7):āc.889T>Cā(p.Ser297Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,572 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000673.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADH7 | NM_000673.7 | c.889T>C | p.Ser297Pro | missense_variant | 7/9 | ENST00000437033.7 | |
ADH7 | NM_001166504.2 | c.949T>C | p.Ser317Pro | missense_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADH7 | ENST00000437033.7 | c.889T>C | p.Ser297Pro | missense_variant | 7/9 | 1 | NM_000673.7 | P1 | |
ADH7 | ENST00000209665.8 | c.925T>C | p.Ser309Pro | missense_variant | 7/9 | 1 | |||
ADH7 | ENST00000476959.5 | c.949T>C | p.Ser317Pro | missense_variant | 7/9 | 2 | |||
ADH7 | ENST00000482593.5 | c.718T>C | p.Ser240Pro | missense_variant | 8/10 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251048Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135668
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461572Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727090
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 17, 2023 | The c.925T>C (p.S309P) alteration is located in exon 7 (coding exon 7) of the ADH7 gene. This alteration results from a T to C substitution at nucleotide position 925, causing the serine (S) at amino acid position 309 to be replaced by a proline (P). 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