rs371578418
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BS1
The NM_173812.5(DPY19L2):c.804-5del variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00017 in 1,345,924 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000031 ( 0 hom., cov: 0)
Exomes 𝑓: 0.00018 ( 0 hom. )
Consequence
DPY19L2
NM_173812.5 splice_region, splice_polypyrimidine_tract, intron
NM_173812.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.702
Genes affected
DPY19L2 (HGNC:19414): (dpy-19 like 2) The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BS1
?
Variant frequency is greater than expected in population amr. gnomad4_exome allele frequency = 0.000185 (225/1218602) while in subpopulation AMR AF= 0.00125 (28/22432). AF 95% confidence interval is 0.000887. There are 0 homozygotes in gnomad4_exome. There are 113 alleles in male gnomad4_exome subpopulation. Median coverage is 33. This position pass quality control queck.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DPY19L2 | NM_173812.5 | c.804-5del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000324472.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DPY19L2 | ENST00000324472.9 | c.804-5del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_173812.5 | P1 | |||
DPY19L2 | ENST00000306389.7 | c.*287-5del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, NMD_transcript_variant | 1 | |||||
ENST00000509615.2 | n.239-2707del | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000314 AC: 4AN: 127322Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.000185 AC: 225AN: 1218602Hom.: 0 Cov.: 33 AF XY: 0.000187 AC XY: 113AN XY: 602722
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GnomAD4 genome ? AF: 0.0000314 AC: 4AN: 127322Hom.: 0 Cov.: 0 AF XY: 0.0000165 AC XY: 1AN XY: 60746
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ClinVar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at