chr16-30985729-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_025193.4(HSD3B7):c.71A>G(p.His24Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0025 in 1,608,688 control chromosomes in the GnomAD database, including 122 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. H24H) has been classified as Likely benign.
Frequency
Consequence
NM_025193.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HSD3B7 | NM_025193.4 | c.71A>G | p.His24Arg | missense_variant | 2/7 | ENST00000297679.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HSD3B7 | ENST00000297679.10 | c.71A>G | p.His24Arg | missense_variant | 2/7 | 1 | NM_025193.4 | P1 | |
ENST00000624286.1 | n.2542T>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.00153 AC: 233AN: 152264Hom.: 6 Cov.: 33
GnomAD3 exomes AF: 0.00519 AC: 1238AN: 238478Hom.: 41 AF XY: 0.00706 AC XY: 915AN XY: 129658
GnomAD4 exome AF: 0.00260 AC: 3788AN: 1456306Hom.: 116 Cov.: 33 AF XY: 0.00379 AC XY: 2742AN XY: 724224
GnomAD4 genome ? AF: 0.00152 AC: 232AN: 152382Hom.: 6 Cov.: 33 AF XY: 0.00215 AC XY: 160AN XY: 74510
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Oct 30, 2015 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 04, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at