2-120346208-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002193.4(INHBB):āc.20G>Cā(p.Arg7Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000249 in 1,203,422 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002193.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
INHBB | NM_002193.4 | c.20G>C | p.Arg7Pro | missense_variant | 1/2 | ENST00000295228.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
INHBB | ENST00000295228.4 | c.20G>C | p.Arg7Pro | missense_variant | 1/2 | 1 | NM_002193.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000666 AC: 1AN: 150144Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000190 AC: 2AN: 1053278Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 496954
GnomAD4 genome AF: 0.00000666 AC: 1AN: 150144Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73278
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2023 | The c.20G>C (p.R7P) alteration is located in exon 1 (coding exon 1) of the INHBB gene. This alteration results from a G to C substitution at nucleotide position 20, causing the arginine (R) at amino acid position 7 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at