rs41283132
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS2
The ENST00000367027.5(HSD11B1):c.744G>A(p.Gly248=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,614,100 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G248G) has been classified as Likely benign.
Frequency
Consequence
ENST00000367027.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HSD11B1 | NM_005525.4 | c.744G>A | p.Gly248= | synonymous_variant | 6/6 | ENST00000367027.5 | NP_005516.1 | |
HSD11B1-AS1 | NR_134510.1 | n.66+8111C>T | intron_variant, non_coding_transcript_variant | |||||
HSD11B1 | NM_001206741.2 | c.744G>A | p.Gly248= | synonymous_variant | 7/7 | NP_001193670.1 | ||
HSD11B1 | NM_181755.3 | c.744G>A | p.Gly248= | synonymous_variant | 7/7 | NP_861420.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSD11B1 | ENST00000367027.5 | c.744G>A | p.Gly248= | synonymous_variant | 6/6 | 1 | NM_005525.4 | ENSP00000355994 | P1 | |
HSD11B1 | ENST00000367028.6 | c.744G>A | p.Gly248= | synonymous_variant | 7/7 | 5 | ENSP00000355995 | P1 | ||
HSD11B1 | ENST00000261465.5 | c.744G>A | p.Gly248= | synonymous_variant | 7/7 | 5 | ENSP00000261465 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251030Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135634
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461814Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727204
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74462
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at