rs1136452
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_005411.5(SFTPA1):c.271C>A(p.Pro91Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,613,298 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. P91A) has been classified as Likely benign.
Frequency
Consequence
NM_005411.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SFTPA1 | NM_005411.5 | c.271C>A | p.Pro91Thr | missense_variant | 4/6 | ENST00000398636.8 | NP_005402.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SFTPA1 | ENST00000398636.8 | c.271C>A | p.Pro91Thr | missense_variant | 4/6 | 1 | NM_005411.5 | ENSP00000381633.3 | ||
SFTPA1 | ENST00000419470.6 | c.316C>A | p.Pro106Thr | missense_variant | 4/6 | 1 | ENSP00000397082.2 | |||
SFTPA1 | ENST00000428376.6 | c.271C>A | p.Pro91Thr | missense_variant | 3/5 | 1 | ENSP00000411102.2 | |||
SFTPA1 | ENST00000429958.5 | c.271C>A | p.Pro91Thr | missense_variant | 3/5 | 1 | ENSP00000395527.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151880Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251330Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135838
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461418Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 727038
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151880Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74178
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at