chr3-45594976-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014240.3(LIMD1):āc.97A>Cā(p.Lys33Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,656 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014240.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LIMD1 | NM_014240.3 | c.97A>C | p.Lys33Gln | missense_variant | 1/8 | ENST00000273317.5 | NP_055055.1 | |
LIMD1 | XM_011534207.4 | c.97A>C | p.Lys33Gln | missense_variant | 1/2 | XP_011532509.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LIMD1 | ENST00000273317.5 | c.97A>C | p.Lys33Gln | missense_variant | 1/8 | 1 | NM_014240.3 | ENSP00000273317 | P1 | |
LIMD1 | ENST00000440097.5 | c.97A>C | p.Lys33Gln | missense_variant | 1/6 | 5 | ENSP00000394537 | |||
LIMD1 | ENST00000465039.5 | n.102-17916A>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461656Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 727108
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 04, 2023 | The c.97A>C (p.K33Q) alteration is located in exon 1 (coding exon 1) of the LIMD1 gene. This alteration results from a A to C substitution at nucleotide position 97, causing the lysine (K) at amino acid position 33 to be replaced by a glutamine (Q). 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
Publications
No publications associated with this variant yet.