rs3024809
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000542.5(SFTPB):c.815G>T(p.Arg272Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000167 in 1,612,452 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R272H) has been classified as Likely benign.
Frequency
Consequence
NM_000542.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SFTPB | NM_000542.5 | c.815G>T | p.Arg272Leu | missense_variant | 7/11 | ENST00000519937.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SFTPB | ENST00000519937.7 | c.815G>T | p.Arg272Leu | missense_variant | 7/11 | 1 | NM_000542.5 | P1 | |
SFTPB | ENST00000393822.7 | c.815G>T | p.Arg272Leu | missense_variant | 8/12 | 1 | P1 | ||
SFTPB | ENST00000409383.6 | c.815G>T | p.Arg272Leu | missense_variant | 8/12 | 1 | P1 | ||
SFTPB | ENST00000428225.5 | c.806G>T | p.Arg269Leu | missense_variant | 7/11 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000580 AC: 14AN: 241454Hom.: 0 AF XY: 0.0000534 AC XY: 7AN XY: 131202
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1460290Hom.: 0 Cov.: 35 AF XY: 0.0000179 AC XY: 13AN XY: 726372
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at