3-8548619-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_014583.4(LMCD1):c.439A>C(p.Thr147Pro) 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. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T147I) has been classified as Uncertain significance.
Frequency
Consequence
NM_014583.4 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 |
---|---|---|---|---|---|---|---|
LMCD1 | NM_014583.4 | c.439A>C | p.Thr147Pro | missense_variant | 4/6 | ENST00000157600.8 | |
LMCD1 | NM_001278233.2 | c.220A>C | p.Thr74Pro | missense_variant | 3/5 | ||
LMCD1 | NM_001278234.2 | c.103A>C | p.Thr35Pro | missense_variant | 3/5 | ||
LMCD1 | NM_001278235.2 | c.439A>C | p.Thr147Pro | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LMCD1 | ENST00000157600.8 | c.439A>C | p.Thr147Pro | missense_variant | 4/6 | 1 | NM_014583.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 05, 2022 | The c.439A>C (p.T147P) alteration is located in exon 4 (coding exon 4) of the LMCD1 gene. This alteration results from a A to C substitution at nucleotide position 439, causing the threonine (T) at amino acid position 147 to be replaced by a proline (P). 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.