rs199644308
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002193.4(INHBB):c.*1135T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00158 in 152,852 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0016 ( 1 hom., cov: 33)
Exomes 𝑓: 0.0019 ( 0 hom. )
Consequence
INHBB
NM_002193.4 3_prime_UTR
NM_002193.4 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.177
Genes affected
INHBB (HGNC:6067): (inhibin subunit beta B) This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. Polymorphisms near this gene are associated with pre-eclampsia in female human patients. [provided by RefSeq, Aug 2016]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BS2
?
High AC in GnomAd4 at 240 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
INHBB | NM_002193.4 | c.*1135T>C | 3_prime_UTR_variant | 2/2 | ENST00000295228.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
INHBB | ENST00000295228.4 | c.*1135T>C | 3_prime_UTR_variant | 2/2 | 1 | NM_002193.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00158 AC: 240AN: 152194Hom.: 1 Cov.: 33
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GnomAD4 exome AF: 0.00185 AC: 1AN: 540Hom.: 0 Cov.: 0 AF XY: 0.00301 AC XY: 1AN XY: 332
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GnomAD4 genome ? AF: 0.00158 AC: 240AN: 152312Hom.: 1 Cov.: 33 AF XY: 0.00129 AC XY: 96AN XY: 74490
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at