chr10-4995770-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP5BP4
The NM_001393392.1(AKR1C2):c.666T>G(p.His222Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. H222H) has been classified as Likely benign.
Frequency
Consequence
NM_001393392.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKR1C2 | NM_001393392.1 | c.666T>G | p.His222Gln | missense_variant | 6/9 | ENST00000380753.9 | |
LOC101928051 | XR_001747340.2 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKR1C2 | ENST00000380753.9 | c.666T>G | p.His222Gln | missense_variant | 6/9 | 1 | NM_001393392.1 | P1 | |
AKR1C2 | ENST00000421196.7 | c.588T>G | p.His196Gln | missense_variant | 5/8 | 1 | |||
ENST00000451575.6 | n.180+103A>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
AKR1C2 | ENST00000460124.5 | n.2126T>G | non_coding_transcript_exon_variant | 5/8 | 5 |
Frequencies
GnomAD3 genomes Cov.: 27
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 27
ClinVar
Submissions by phenotype
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 12, 2011 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at