16-854358-G-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_022773.4(LMF1):c.*174C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00274 in 774,922 control chromosomes in the GnomAD database, including 36 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0085 ( 28 hom., cov: 33)
Exomes 𝑓: 0.0013 ( 8 hom. )
Consequence
LMF1
NM_022773.4 3_prime_UTR
NM_022773.4 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.07
Genes affected
LMF1 (HGNC:14154): (lipase maturation factor 1) Involved in triglyceride metabolic process. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.94).
BP6
?
Variant 16-854358-G-T is Benign according to our data. Variant chr16-854358-G-T is described in ClinVar as [Likely_benign]. Clinvar id is 2446602.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00851 (1295/152254) while in subpopulation AFR AF= 0.0299 (1244/41554). AF 95% confidence interval is 0.0286. There are 28 homozygotes in gnomad4. There are 599 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 27 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LMF1 | NM_022773.4 | c.*174C>A | 3_prime_UTR_variant | 11/11 | ENST00000262301.16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LMF1 | ENST00000262301.16 | c.*174C>A | 3_prime_UTR_variant | 11/11 | 5 | NM_022773.4 | P1 | ||
ENST00000655150.1 | n.632-6674G>T | intron_variant, non_coding_transcript_variant | |||||||
LMF1 | ENST00000543238.5 | c.*174C>A | 3_prime_UTR_variant | 8/8 | 2 | ||||
LMF1 | ENST00000545827.6 | c.*1415C>A | 3_prime_UTR_variant, NMD_transcript_variant | 12/12 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00847 AC: 1289AN: 152136Hom.: 27 Cov.: 33
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GnomAD3 exomes AF: 0.00221 AC: 285AN: 129182Hom.: 1 AF XY: 0.00159 AC XY: 112AN XY: 70398
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GnomAD4 exome AF: 0.00133 AC: 831AN: 622668Hom.: 8 Cov.: 8 AF XY: 0.00108 AC XY: 360AN XY: 331890
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 21, 2019 | See Variant Classification Assertion Criteria. - |
Computational scores
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at