chr11-34456023-A-G
Variant summary
Our verdict is Uncertain significance. The variant received 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001752.4(CAT):c.724A>G(p.Ile242Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,613,974 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. I242I) has been classified as Benign.
Frequency
Consequence
NM_001752.4 missense
Scores
Clinical Significance
Conservation
Publications
- acatalasiaInheritance: AR Classification: STRONG, MODERATE, SUPPORTIVE Submitted by: ClinGen, Labcorp Genetics (formerly Invitae), Orphanet
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ACMG classification
Our verdict: Uncertain_significance. The variant received 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAT | NM_001752.4 | c.724A>G | p.Ile242Val | missense_variant | Exon 7 of 13 | ENST00000241052.5 | NP_001743.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CAT | ENST00000241052.5 | c.724A>G | p.Ile242Val | missense_variant | Exon 7 of 13 | 1 | NM_001752.4 | ENSP00000241052.4 | ||
CAT | ENST00000528104.2 | n.94A>G | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 | |||||
CAT | ENST00000650153.1 | n.*544A>G | non_coding_transcript_exon_variant | Exon 6 of 9 | ENSP00000497751.1 | |||||
CAT | ENST00000650153.1 | n.*544A>G | 3_prime_UTR_variant | Exon 6 of 9 | ENSP00000497751.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152192Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000796 AC: 2AN: 251238 AF XY: 0.0000147 show subpopulations
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461782Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 727178 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74346 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.724A>G (p.I242V) alteration is located in exon 7 (coding exon 7) of the CAT gene. This alteration results from a A to G substitution at nucleotide position 724, causing the isoleucine (I) at amino acid position 242 to be replaced by a valine (V). 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