8-144098905-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030974.4(SHARPIN):c.1137G>C(p.Trp379Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030974.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SHARPIN | ENST00000398712.7 | c.1137G>C | p.Trp379Cys | missense_variant | Exon 8 of 9 | 1 | NM_030974.4 | ENSP00000381698.2 | ||
SHARPIN | ENST00000359551.6 | n.*31G>C | non_coding_transcript_exon_variant | Exon 7 of 8 | 1 | ENSP00000352551.6 | ||||
SHARPIN | ENST00000359551.6 | n.*31G>C | 3_prime_UTR_variant | Exon 7 of 8 | 1 | ENSP00000352551.6 | ||||
SHARPIN | ENST00000532536.5 | c.261G>C | p.Trp87Cys | missense_variant | Exon 3 of 3 | 3 | ENSP00000432355.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1137G>C (p.W379C) alteration is located in exon 8 (coding exon 8) of the SHARPIN gene. This alteration results from a G to C substitution at nucleotide position 1137, causing the tryptophan (W) at amino acid position 379 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at