21-29326677-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001186.4(BACH1):c.853G>A(p.Ala285Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000419 in 1,614,204 control chromosomes in the GnomAD database, including 5 homozygotes. 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 (★).
Frequency
Consequence
NM_001186.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BACH1 | NM_001186.4 | c.853G>A | p.Ala285Thr | missense_variant | 3/5 | ENST00000286800.8 | |
BACH1 | NM_206866.3 | c.853G>A | p.Ala285Thr | missense_variant | 3/5 | ||
BACH1 | NR_027655.3 | n.1032G>A | non_coding_transcript_exon_variant | 3/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BACH1 | ENST00000286800.8 | c.853G>A | p.Ala285Thr | missense_variant | 3/5 | 1 | NM_001186.4 | P1 | |
BACH1 | ENST00000399921.5 | c.853G>A | p.Ala285Thr | missense_variant | 3/5 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000401 AC: 61AN: 152216Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000502 AC: 126AN: 251184Hom.: 0 AF XY: 0.000655 AC XY: 89AN XY: 135860
GnomAD4 exome AF: 0.000421 AC: 615AN: 1461870Hom.: 5 Cov.: 31 AF XY: 0.000492 AC XY: 358AN XY: 727234
GnomAD4 genome ? AF: 0.000400 AC: 61AN: 152334Hom.: 0 Cov.: 33 AF XY: 0.000362 AC XY: 27AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.853G>A (p.A285T) alteration is located in exon 3 (coding exon 2) of the BACH1 gene. This alteration results from a G to A substitution at nucleotide position 853, causing the alanine (A) at amino acid position 285 to be replaced by a threonine (T). 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