17-7041768-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001370549.1(SLC16A11):c.1255C>A(p.Pro419Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0186 in 1,613,562 control chromosomes in the GnomAD database, including 2,566 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001370549.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC16A11 | NM_001370549.1 | c.1255C>A | p.Pro419Thr | missense_variant | 5/5 | ENST00000574600.3 | NP_001357478.1 | |
SLC16A11 | NM_153357.3 | c.1255C>A | p.Pro419Thr | missense_variant | 4/4 | NP_699188.2 | ||
SLC16A11 | NM_001370553.1 | c.*163C>A | 3_prime_UTR_variant | 4/4 | NP_001357482.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC16A11 | ENST00000574600.3 | c.1255C>A | p.Pro419Thr | missense_variant | 5/5 | 3 | NM_001370549.1 | ENSP00000460927.2 | ||
SLC16A11 | ENST00000573338.1 | n.818C>A | non_coding_transcript_exon_variant | 2/2 | 1 | |||||
SLC16A11 | ENST00000662352.3 | c.1255C>A | p.Pro419Thr | missense_variant | 4/4 | ENSP00000499634.1 | ||||
SLC16A11 | ENST00000673828 | c.*163C>A | 3_prime_UTR_variant | 4/4 | ENSP00000501313.1 |
Frequencies
GnomAD3 genomes AF: 0.0251 AC: 3814AN: 152054Hom.: 269 Cov.: 32
GnomAD3 exomes AF: 0.0543 AC: 13523AN: 248848Hom.: 1816 AF XY: 0.0430 AC XY: 5815AN XY: 135292
GnomAD4 exome AF: 0.0180 AC: 26265AN: 1461390Hom.: 2297 Cov.: 32 AF XY: 0.0164 AC XY: 11913AN XY: 726984
GnomAD4 genome AF: 0.0251 AC: 3817AN: 152172Hom.: 269 Cov.: 32 AF XY: 0.0280 AC XY: 2082AN XY: 74396
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at