4-99216217-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001102470.2(ADH6):āc.64T>Cā(p.Phe22Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000695 in 1,438,460 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_001102470.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADH6 | NM_001102470.2 | c.64T>C | p.Phe22Leu | missense_variant | 2/9 | ENST00000394899.6 | NP_001095940.1 | |
ADH6 | NM_000672.4 | c.64T>C | p.Phe22Leu | missense_variant | 2/8 | NP_000663.1 | ||
ADH6 | NR_132990.2 | n.158T>C | non_coding_transcript_exon_variant | 2/7 | ||||
LOC100507053 | NR_037884.1 | n.3789+11786A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADH6 | ENST00000394899.6 | c.64T>C | p.Phe22Leu | missense_variant | 2/9 | 2 | NM_001102470.2 | ENSP00000378359.2 |
Frequencies
GnomAD3 genomes Cov.: 27
GnomAD4 exome AF: 6.95e-7 AC: 1AN: 1438460Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 715248
GnomAD4 genome Cov.: 27
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 08, 2022 | The c.64T>C (p.F22L) alteration is located in exon 2 (coding exon 2) of the ADH6 gene. This alteration results from a T to C substitution at nucleotide position 64, causing the phenylalanine (F) at amino acid position 22 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.