rs11234
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The NM_005411.5(SFTPA1):c.*61C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,830 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.
Frequency
Consequence
NM_005411.5 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SFTPA1 | NM_005411.5 | c.*61C>A | 3_prime_UTR_variant | Exon 6 of 6 | ENST00000398636.8 | NP_005402.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SFTPA1 | ENST00000398636.8 | c.*61C>A | 3_prime_UTR_variant | Exon 6 of 6 | 1 | NM_005411.5 | ENSP00000381633.3 | |||
SFTPA1 | ENST00000419470.6 | c.*61C>A | 3_prime_UTR_variant | Exon 6 of 6 | 1 | ENSP00000397082.2 | ||||
SFTPA1 | ENST00000428376.6 | c.*61C>A | 3_prime_UTR_variant | Exon 5 of 5 | 1 | ENSP00000411102.2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152238Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461474Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 727038 show subpopulations
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152356Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74496 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at