rs112006551
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BS1BS2
The NM_144991.3(TSPEAR):c.1836G>T(p.Ser612=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00111 in 1,613,590 control chromosomes in the GnomAD database, including 22 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. S612S) has been classified as Likely benign.
Frequency
Consequence
NM_144991.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TSPEAR | NM_144991.3 | c.1836G>T | p.Ser612= | synonymous_variant | 11/12 | ENST00000323084.9 | |
TSPEAR | NM_001272037.2 | c.1632G>T | p.Ser544= | synonymous_variant | 12/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TSPEAR | ENST00000323084.9 | c.1836G>T | p.Ser612= | synonymous_variant | 11/12 | 1 | NM_144991.3 | P1 | |
TSPEAR | ENST00000642437.1 | c.*1781G>T | 3_prime_UTR_variant, NMD_transcript_variant | 12/13 |
Frequencies
GnomAD3 genomes ? AF: 0.00609 AC: 925AN: 151956Hom.: 11 Cov.: 30
GnomAD3 exomes AF: 0.00154 AC: 386AN: 251366Hom.: 1 AF XY: 0.00107 AC XY: 146AN XY: 135868
GnomAD4 exome AF: 0.000582 AC: 851AN: 1461516Hom.: 9 Cov.: 31 AF XY: 0.000495 AC XY: 360AN XY: 727102
GnomAD4 genome ? AF: 0.00619 AC: 941AN: 152074Hom.: 13 Cov.: 30 AF XY: 0.00601 AC XY: 447AN XY: 74344
ClinVar
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Nov 14, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 28, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 11, 2024 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Nov 24, 2014 | Ser612Ser in exon 11 of TSPEAR: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2.0% (87/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs112006551). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at