chr3-186617318-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001622.4(AHSG):c.541C>G(p.Gln181Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,614,232 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q181H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001622.4 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 | UniProt |
---|---|---|---|---|---|---|---|
AHSG | NM_001622.4 | c.541C>G | p.Gln181Glu | missense_variant | 4/7 | ENST00000411641.7 | |
AHSG | NM_001354571.2 | c.544C>G | p.Gln182Glu | missense_variant | 4/7 | ||
AHSG | NM_001354572.2 | c.538C>G | p.Gln180Glu | missense_variant | 4/7 | ||
AHSG | NM_001354573.2 | c.541C>G | p.Gln181Glu | missense_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHSG | ENST00000411641.7 | c.541C>G | p.Gln181Glu | missense_variant | 4/7 | 1 | NM_001622.4 | P3 | |
HRG-AS1 | ENST00000630178.2 | n.239-37352G>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251484Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135916
GnomAD4 exome AF: 0.0000150 AC: 22AN: 1461892Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 727246
GnomAD4 genome ? AF: 0.0000919 AC: 14AN: 152340Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 09, 2023 | The c.541C>G (p.Q181E) alteration is located in exon 4 (coding exon 4) of the AHSG gene. This alteration results from a C to G substitution at nucleotide position 541, causing the glutamine (Q) at amino acid position 181 to be replaced by a glutamic acid (E). 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