rs1980781
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_178006.4(STARD13):c.1926A>T(p.Ser642=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,438 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_178006.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STARD13 | NM_178006.4 | c.1926A>T | p.Ser642= | synonymous_variant | 7/14 | ENST00000336934.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STARD13 | ENST00000336934.10 | c.1926A>T | p.Ser642= | synonymous_variant | 7/14 | 1 | NM_178006.4 | P4 | |
STARD13 | ENST00000255486.8 | c.1902A>T | p.Ser634= | synonymous_variant | 7/14 | 1 | A2 | ||
STARD13 | ENST00000567873.2 | c.1881A>T | p.Ser627= | synonymous_variant | 7/14 | 1 | A2 | ||
STARD13 | ENST00000399365.7 | c.1572A>T | p.Ser524= | synonymous_variant | 7/14 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251314Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135838
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461438Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726938
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at