7-88284046-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000380079.9(STEAP4):āc.224G>Cā(p.Gly75Ala) 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. 15/21 in silico tools predict a benign outcome for this variant. 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. G75D) has been classified as Likely benign.
Frequency
Consequence
ENST00000380079.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
STEAP4 | NM_024636.4 | c.224G>C | p.Gly75Ala | missense_variant | 2/5 | ENST00000380079.9 | NP_078912.2 | |
STEAP4 | NM_001205315.2 | c.224G>C | p.Gly75Ala | missense_variant | 3/6 | NP_001192244.1 | ||
STEAP4 | NM_001205316.2 | c.224G>C | p.Gly75Ala | missense_variant | 2/4 | NP_001192245.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STEAP4 | ENST00000380079.9 | c.224G>C | p.Gly75Ala | missense_variant | 2/5 | 1 | NM_024636.4 | ENSP00000369419 | P1 | |
ENST00000628577.2 | n.604-8142C>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461858Hom.: 0 Cov.: 73 AF XY: 0.00000138 AC XY: 1AN XY: 727224
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at