15-100887320-GTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACC-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBS1BS2
The NM_000693.4(ALDH1A3):c.205-236_205-177del variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0226 in 147,432 control chromosomes in the GnomAD database, including 65 homozygotes. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.023 ( 65 hom., cov: 32)
Consequence
ALDH1A3
NM_000693.4 intron
NM_000693.4 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.887
Genes affected
ALDH1A3 (HGNC:409): (aldehyde dehydrogenase 1 family member A3) This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
?
Variant 15-100887320-GTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACC-G is Benign according to our data. Variant chr15-100887320-GTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTGCAGTCACC-G is described in ClinVar as [Likely_benign]. Clinvar id is 1216244.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0226 (3338/147432) while in subpopulation NFE AF= 0.0346 (2323/67208). AF 95% confidence interval is 0.0334. There are 65 homozygotes in gnomad4. There are 1596 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 65 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDH1A3 | NM_000693.4 | c.205-236_205-177del | intron_variant | ENST00000329841.10 | |||
ALDH1A3 | NM_001293815.2 | c.205-236_205-177del | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH1A3 | ENST00000329841.10 | c.205-236_205-177del | intron_variant | 1 | NM_000693.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0226 AC: 3337AN: 147344Hom.: 65 Cov.: 32
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GnomAD4 genome ? AF: 0.0226 AC: 3338AN: 147432Hom.: 65 Cov.: 32 AF XY: 0.0222 AC XY: 1596AN XY: 71938
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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 | Sep 11, 2018 | - - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at