chr7-138076610-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005989.4(AKR1D1):c.92C>T(p.Ser31Leu) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000454 in 1,608,830 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 17/23 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_005989.4 missense, splice_region
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 |
---|---|---|---|---|---|---|---|
AKR1D1 | NM_005989.4 | c.92C>T | p.Ser31Leu | missense_variant, splice_region_variant | 1/9 | ENST00000242375.8 | |
AKR1D1 | NM_001190907.2 | c.92C>T | p.Ser31Leu | missense_variant, splice_region_variant | 1/8 | ||
AKR1D1 | NM_001190906.2 | c.92C>T | p.Ser31Leu | missense_variant, splice_region_variant | 1/8 | ||
AKR1D1 | XM_047420763.1 | c.92C>T | p.Ser31Leu | missense_variant, splice_region_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR1D1 | ENST00000242375.8 | c.92C>T | p.Ser31Leu | missense_variant, splice_region_variant | 1/9 | 1 | NM_005989.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 250924Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135612
GnomAD4 exome AF: 0.0000460 AC: 67AN: 1456692Hom.: 0 Cov.: 29 AF XY: 0.0000414 AC XY: 30AN XY: 725034
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74288
ClinVar
Submissions by phenotype
not provided Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jul 05, 2018 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Aug 01, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at