rs6413520
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003019.5(SFTPD):c.135T>G(p.Ser45Arg) 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 benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S45S) has been classified as Benign.
Frequency
Consequence
NM_003019.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SFTPD | NM_003019.5 | c.135T>G | p.Ser45Arg | missense_variant | 2/8 | ENST00000372292.8 | |
SFTPD | XM_011540087.2 | c.135T>G | p.Ser45Arg | missense_variant | 2/8 | ||
SFTPD | XM_011540088.3 | c.135T>G | p.Ser45Arg | missense_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SFTPD | ENST00000372292.8 | c.135T>G | p.Ser45Arg | missense_variant | 2/8 | 1 | NM_003019.5 | P1 | |
SFTPD | ENST00000444384.3 | c.174T>G | p.Ser58Arg | missense_variant | 2/6 | 3 | |||
ENST00000421889.1 | n.334-3503A>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at