rs4652492
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_033343.4(LHX4):c.248+851A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.505 in 152,094 control chromosomes in the GnomAD database, including 19,575 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 0.50 ( 19575 hom., cov: 33)
Consequence
LHX4
NM_033343.4 intron
NM_033343.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.31
Genes affected
LHX4 (HGNC:21734): (LIM homeobox 4) This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.586 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LHX4 | NM_033343.4 | c.248+851A>G | intron_variant | ENST00000263726.4 | NP_203129.1 | |||
LHX4 | XM_011510105.3 | c.65+851A>G | intron_variant | XP_011508407.1 | ||||
LHX4 | XM_011510106.4 | c.65+851A>G | intron_variant | XP_011508408.1 | ||||
LHX4 | XM_011510108.3 | c.-29+851A>G | intron_variant | XP_011508410.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LHX4 | ENST00000263726.4 | c.248+851A>G | intron_variant | 1 | NM_033343.4 | ENSP00000263726 | P1 | |||
LHX4 | ENST00000561113.1 | c.185+838A>G | intron_variant, NMD_transcript_variant | 2 | ENSP00000452783 |
Frequencies
GnomAD3 genomes AF: 0.505 AC: 76705AN: 151974Hom.: 19540 Cov.: 33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.505 AC: 76799AN: 152094Hom.: 19575 Cov.: 33 AF XY: 0.506 AC XY: 37651AN XY: 74346
GnomAD4 genome
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1794
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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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