rs121917835
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP3_StrongPP5
The NM_001317778.2(SFTPC):c.545T>A(p.Leu182Gln) 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 Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L182R) has been classified as Pathogenic.
Frequency
Consequence
NM_001317778.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SFTPC | NM_001317778.2 | c.545T>A | p.Leu182Gln | missense_variant | 5/6 | ENST00000679463.1 | NP_001304707.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SFTPC | ENST00000679463.1 | c.545T>A | p.Leu182Gln | missense_variant | 5/6 | NM_001317778.2 | ENSP00000505152.1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 51
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
Surfactant metabolism dysfunction, pulmonary, 2 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 2002 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at