rs145796091
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_139076.3(ABRAXAS1):c.21G>A(p.Ser7=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00305 in 1,593,722 control chromosomes in the GnomAD database, including 181 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. S7S) has been classified as Likely benign.
Frequency
Consequence
NM_139076.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABRAXAS1 | NM_139076.3 | c.21G>A | p.Ser7= | synonymous_variant | 1/9 | ENST00000321945.12 | |
ABRAXAS1 | NM_001345962.2 | c.-240G>A | 5_prime_UTR_variant | 1/8 | |||
ABRAXAS1 | XR_001741334.3 | n.49G>A | non_coding_transcript_exon_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABRAXAS1 | ENST00000321945.12 | c.21G>A | p.Ser7= | synonymous_variant | 1/9 | 1 | NM_139076.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00688 AC: 1047AN: 152180Hom.: 36 Cov.: 33
GnomAD3 exomes AF: 0.0114 AC: 2625AN: 229328Hom.: 103 AF XY: 0.00860 AC XY: 1086AN XY: 126296
GnomAD4 exome AF: 0.00265 AC: 3823AN: 1441434Hom.: 145 Cov.: 30 AF XY: 0.00225 AC XY: 1615AN XY: 717386
GnomAD4 genome ? AF: 0.00684 AC: 1042AN: 152288Hom.: 36 Cov.: 33 AF XY: 0.00803 AC XY: 598AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 03, 2015 | - - |
ABRAXAS1-related condition Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | May 23, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at