NM_002959.7:c.1620C>T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BS1BS2
The NM_002959.7(SORT1):c.1620C>T(p.Ser540Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00175 in 1,612,182 control chromosomes in the GnomAD database, including 75 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_002959.7 synonymous
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SORT1 | NM_002959.7 | c.1620C>T | p.Ser540Ser | synonymous_variant | Exon 13 of 20 | ENST00000256637.8 | NP_002950.3 | |
SORT1 | NM_001205228.2 | c.1209C>T | p.Ser403Ser | synonymous_variant | Exon 13 of 20 | NP_001192157.1 | ||
SORT1 | XM_005271100.3 | c.1617C>T | p.Ser539Ser | synonymous_variant | Exon 13 of 20 | XP_005271157.1 | ||
SORT1 | XM_005271101.4 | c.1212C>T | p.Ser404Ser | synonymous_variant | Exon 13 of 20 | XP_005271158.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SORT1 | ENST00000256637.8 | c.1620C>T | p.Ser540Ser | synonymous_variant | Exon 13 of 20 | 1 | NM_002959.7 | ENSP00000256637.6 | ||
SORT1 | ENST00000538502.5 | c.1209C>T | p.Ser403Ser | synonymous_variant | Exon 13 of 20 | 2 | ENSP00000438597.1 | |||
SORT1 | ENST00000466471.1 | n.312C>T | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00102 AC: 155AN: 152168Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00386 AC: 968AN: 251008Hom.: 24 AF XY: 0.00512 AC XY: 694AN XY: 135634
GnomAD4 exome AF: 0.00182 AC: 2658AN: 1459896Hom.: 71 Cov.: 30 AF XY: 0.00264 AC XY: 1919AN XY: 726250
GnomAD4 genome AF: 0.00102 AC: 156AN: 152286Hom.: 4 Cov.: 32 AF XY: 0.00157 AC XY: 117AN XY: 74482
ClinVar
Submissions by phenotype
SORT1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at