rs540140
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_054012.4(ASS1):c.773+184G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.264 in 773,552 control chromosomes in the GnomAD database, including 29,033 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.23 ( 4726 hom., cov: 34)
Exomes 𝑓: 0.27 ( 24307 hom. )
Consequence
ASS1
NM_054012.4 intron
NM_054012.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.689
Genes affected
ASS1 (HGNC:758): (argininosuccinate synthase 1) The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
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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=-0.82).
BP6
?
Variant 9-130479984-G-T is Benign according to our data. Variant chr9-130479984-G-T is described in ClinVar as [Benign]. Clinvar id is 1261532.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.305 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASS1 | NM_054012.4 | c.773+184G>T | intron_variant | ENST00000352480.10 | |||
ASS1 | NM_000050.4 | c.773+184G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASS1 | ENST00000352480.10 | c.773+184G>T | intron_variant | 1 | NM_054012.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.227 AC: 34513AN: 152106Hom.: 4726 Cov.: 34
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GnomAD4 exome AF: 0.273 AC: 169619AN: 621328Hom.: 24307 AF XY: 0.275 AC XY: 91723AN XY: 333742
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GnomAD4 genome ? AF: 0.227 AC: 34521AN: 152224Hom.: 4726 Cov.: 34 AF XY: 0.225 AC XY: 16767AN XY: 74422
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 26, 2018 | - - |
Computational scores
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
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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