rs3740617
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005574.4(LMO2):c.570A>T(p.Lys190Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. K190K) has been classified as Benign.
Frequency
Consequence
NM_005574.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LMO2 | NM_005574.4 | c.570A>T | p.Lys190Asn | missense_variant | 6/6 | ENST00000257818.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LMO2 | ENST00000257818.3 | c.570A>T | p.Lys190Asn | missense_variant | 6/6 | 1 | NM_005574.4 | ||
LMO2 | ENST00000395833.7 | c.363A>T | p.Lys121Asn | missense_variant | 3/3 | 1 | P1 | ||
LMO2 | ENST00000464025.5 | n.656A>T | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
LMO2 | ENST00000411482.1 | c.*307A>T | 3_prime_UTR_variant, NMD_transcript_variant | 3/3 | 1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 45
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at