rs506197
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001382289.1(FSHB):c.*476A>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. 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: not found (cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
FSHB
NM_001382289.1 3_prime_UTR
NM_001382289.1 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0790
Genes affected
FSHB (HGNC:3964): (follicle stimulating hormone subunit beta) The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FSHB | NM_001382289.1 | c.*476A>C | 3_prime_UTR_variant | 3/3 | ENST00000533718.2 | ||
ARL14EP-DT | XR_007062639.1 | n.351+82614T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FSHB | ENST00000533718.2 | c.*476A>C | 3_prime_UTR_variant | 3/3 | 1 | NM_001382289.1 | P1 | ||
ARL14EP-DT | ENST00000662729.1 | n.293-77423T>G | intron_variant, non_coding_transcript_variant | ||||||
FSHB | ENST00000254122.8 | c.*476A>C | 3_prime_UTR_variant | 3/3 | 5 | P1 | |||
FSHB | ENST00000417547.1 | c.*476A>C | 3_prime_UTR_variant | 3/3 | 5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 26178Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 13368
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
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0
AN:
26178
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Cov.:
0
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0
AN XY:
13368
Gnomad4 AFR exome
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GnomAD4 genome ? Cov.: 32
GnomAD4 genome
?
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
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