rs146313438
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001377540.1(SLMAP):c.2064C>T(p.Thr688Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000811 in 1,598,420 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001377540.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLMAP | NM_001377540.1 | c.2064C>T | p.Thr688Thr | synonymous_variant | Exon 21 of 25 | ENST00000671191.1 | NP_001364469.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLMAP | ENST00000671191.1 | c.2064C>T | p.Thr688Thr | synonymous_variant | Exon 21 of 25 | NM_001377540.1 | ENSP00000499458.1 |
Frequencies
GnomAD3 genomes AF: 0.00297 AC: 451AN: 151988Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00129 AC: 322AN: 250350Hom.: 1 AF XY: 0.00127 AC XY: 172AN XY: 135368
GnomAD4 exome AF: 0.000579 AC: 838AN: 1446316Hom.: 9 Cov.: 27 AF XY: 0.000617 AC XY: 444AN XY: 719976
GnomAD4 genome AF: 0.00301 AC: 458AN: 152104Hom.: 3 Cov.: 32 AF XY: 0.00297 AC XY: 221AN XY: 74358
ClinVar
Submissions by phenotype
not specified Benign:2
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
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Brugada syndrome Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at