2-236214532-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_212556.4(ASB18):c.931C>T(p.Leu311Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000231 in 1,427,484 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_212556.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB18 | NM_212556.4 | c.931C>T | p.Leu311Phe | missense_variant | 4/6 | ENST00000409749.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB18 | ENST00000409749.8 | c.931C>T | p.Leu311Phe | missense_variant | 4/6 | 1 | NM_212556.4 | P1 | |
GBX2-AS1 | ENST00000415226.1 | n.224-44975G>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151692Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000251 AC: 32AN: 1275792Hom.: 0 Cov.: 31 AF XY: 0.0000288 AC XY: 18AN XY: 625376
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151692Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74096
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 30, 2024 | The c.931C>T (p.L311F) alteration is located in exon 4 (coding exon 4) of the ASB18 gene. This alteration results from a C to T substitution at nucleotide position 931, causing the leucine (L) at amino acid position 311 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at