rs145177851
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198993.5(STAC2):c.1138G>T(p.Val380Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000138 in 1,454,146 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V380M) has been classified as Uncertain significance.
Frequency
Consequence
NM_198993.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
STAC2 | NM_198993.5 | c.1138G>T | p.Val380Leu | missense_variant | Exon 11 of 11 | ENST00000333461.6 | NP_945344.1 | |
STAC2 | NM_001351360.2 | c.712G>T | p.Val238Leu | missense_variant | Exon 11 of 11 | NP_001338289.1 | ||
STAC2 | XM_017024580.2 | c.1153G>T | p.Val385Leu | missense_variant | Exon 11 of 11 | XP_016880069.1 | ||
STAC2 | XM_017024581.2 | c.988G>T | p.Val330Leu | missense_variant | Exon 9 of 9 | XP_016880070.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STAC2 | ENST00000333461.6 | c.1138G>T | p.Val380Leu | missense_variant | Exon 11 of 11 | 1 | NM_198993.5 | ENSP00000327509.5 | ||
STAC2 | ENST00000584501.1 | n.*489G>T | non_coding_transcript_exon_variant | Exon 11 of 11 | 1 | ENSP00000463299.1 | ||||
STAC2 | ENST00000584501.1 | n.*489G>T | 3_prime_UTR_variant | Exon 11 of 11 | 1 | ENSP00000463299.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1454146Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 722632
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at