1-19306079-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003689.4(AKR7A2):c.857C>T(p.Ala286Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,614,058 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_003689.4 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 |
---|---|---|---|---|---|---|---|
AKR7A2 | NM_003689.4 | c.857C>T | p.Ala286Val | missense_variant | 6/7 | ENST00000235835.8 | |
AKR7A2 | NM_001320979.1 | c.752C>T | p.Ala251Val | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR7A2 | ENST00000235835.8 | c.857C>T | p.Ala286Val | missense_variant | 6/7 | 1 | NM_003689.4 | P1 | |
AKR7A2 | ENST00000330072.9 | c.722C>T | p.Ala241Val | missense_variant | 5/6 | 2 | |||
AKR7A2 | ENST00000489286.5 | c.444C>T | p.Arg148= | synonymous_variant | 4/5 | 5 | |||
AKR7A2 | ENST00000481966.1 | c.*157C>T | 3_prime_UTR_variant, NMD_transcript_variant | 4/5 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152258Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251418Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135900
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461800Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727208
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152258Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 01, 2022 | The c.857C>T (p.A286V) alteration is located in exon 6 (coding exon 6) of the AKR7A2 gene. This alteration results from a C to T substitution at nucleotide position 857, causing the alanine (A) at amino acid position 286 to be replaced by a valine (V). 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