chr21-29485800-A-G

Variant names:

• chr21-29485800-A-G
• rs2832352
• ENST00000422809.5:c.472-96512A>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000422809.5(BACH1):​c.472-96512A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.827 in 152,008 control chromosomes in the GnomAD database, including 55,208 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.83 (55208 hom., cov: 30)
• Consequence: BACH1 ENST00000422809.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.415
• Publications: 0 publications found

Genes affected

BACH1 (HGNC:935): (BTB domain and CNC homolog 1) This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.965 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000422809.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BACH1	ENST00000422809.5	TSL:5	c.472-96512A>G		intron	N/A	ENSP00000416569.1
	BACH1	ENST00000468059.1	TSL:3	c.325-111770A>G		intron	N/A	ENSP00000470673.1

Frequencies

GnomAD3 genomes AF: 0.828 AC: 125690 AN: 151890 Hom.: 55217 Cov.: 30

Gnomad AFR AF: 0.501

Gnomad AMI AF: 0.984

Gnomad AMR AF: 0.878

Gnomad ASJ AF: 0.961

Gnomad EAS AF: 0.840

Gnomad SAS AF: 0.958

Gnomad FIN AF: 0.969

Gnomad MID AF: 0.953

Gnomad NFE AF: 0.971

Gnomad OTH AF: 0.863

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.827 AC: 125712 AN: 152008 Hom.: 55208 Cov.: 30 AF XY: 0.830 AC XY: 61669 AN XY: 74318

African (AFR) AF: 0.501 AC: 20716 AN: 41384

American (AMR) AF: 0.878 AC: 13406 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.961 AC: 3336 AN: 3470

East Asian (EAS) AF: 0.840 AC: 4322 AN: 5148

South Asian (SAS) AF: 0.958 AC: 4604 AN: 4808

European-Finnish (FIN) AF: 0.969 AC: 10285 AN: 10616

Middle Eastern (MID) AF: 0.946 AC: 278 AN: 294

European-Non Finnish (NFE) AF: 0.971 AC: 66054 AN: 68000

Other (OTH) AF: 0.861 AC: 1814 AN: 2108

Alfa AF: 0.825 Hom.: 8102

Bravo AF: 0.805

Asia WGS AF: 0.852 AC: 2962 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.059
DANN	Benign	0.54
PhyloP100		-0.41

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs2832352; hg19: chr21-30858120;