rs28931583
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000342.4(SLC4A1):c.980C>T(p.Pro327Leu) 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 1,613,902 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P327R) has been classified as Uncertain significance.
Frequency
Consequence
NM_000342.4 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 |
---|---|---|---|---|---|---|---|
SLC4A1 | NM_000342.4 | c.980C>T | p.Pro327Leu | missense_variant | 10/20 | ENST00000262418.12 | |
SLC4A1 | XM_011525129.3 | c.980C>T | p.Pro327Leu | missense_variant | 10/19 | ||
SLC4A1 | XM_005257593.6 | c.785C>T | p.Pro262Leu | missense_variant | 8/18 | ||
SLC4A1 | XM_011525130.2 | c.980C>T | p.Pro327Leu | missense_variant | 10/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC4A1 | ENST00000262418.12 | c.980C>T | p.Pro327Leu | missense_variant | 10/20 | 1 | NM_000342.4 | P1 | |
SLC4A1 | ENST00000399246.3 | c.777+742C>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152104Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461798Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727206
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152104Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at