chr10-5205821-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001818.5(AKR1C4):āc.434C>Gā(p.Ser145Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.141 in 1,612,174 control chromosomes in the GnomAD database, including 17,158 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001818.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKR1C4 | NM_001818.5 | c.434C>G | p.Ser145Cys | missense_variant | 4/9 | ENST00000263126.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR1C4 | ENST00000263126.3 | c.434C>G | p.Ser145Cys | missense_variant | 4/9 | 1 | NM_001818.5 | P1 | |
AKR1C4 | ENST00000380448.5 | c.434C>G | p.Ser145Cys | missense_variant | 6/11 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.113 AC: 17182AN: 152118Hom.: 1183 Cov.: 32
GnomAD3 exomes AF: 0.138 AC: 34471AN: 250398Hom.: 2791 AF XY: 0.136 AC XY: 18413AN XY: 135336
GnomAD4 exome AF: 0.144 AC: 210218AN: 1459938Hom.: 15972 Cov.: 30 AF XY: 0.142 AC XY: 103224AN XY: 726324
GnomAD4 genome AF: 0.113 AC: 17198AN: 152236Hom.: 1186 Cov.: 32 AF XY: 0.113 AC XY: 8410AN XY: 74432
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 27, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at