chr3-186620636-A-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001622.4(AHSG):c.810A>G(p.Thr270=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T270T) has been classified as Benign.
Frequency
Consequence
NM_001622.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AHSG | NM_001622.4 | c.810A>G | p.Thr270= | synonymous_variant | 7/7 | ENST00000411641.7 | |
AHSG | NM_001354571.2 | c.813A>G | p.Thr271= | synonymous_variant | 7/7 | ||
AHSG | NM_001354572.2 | c.807A>G | p.Thr269= | synonymous_variant | 7/7 | ||
AHSG | NM_001354573.2 | c.726A>G | p.Thr242= | synonymous_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHSG | ENST00000411641.7 | c.810A>G | p.Thr270= | synonymous_variant | 7/7 | 1 | NM_001622.4 | P3 | |
HRG-AS1 | ENST00000630178.2 | n.239-40670T>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 66
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at