8-103341105-T-G

Variant names:

• chr8-103341105-T-G
• rs951826
• ENST00000734532.1:n.129+30177A>C

Variant summary

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

The ENST00000734532.1(BAALC-AS1):​n.129+30177A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.818 in 152,146 control chromosomes in the GnomAD database, including 51,122 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 0.82 (51122 hom., cov: 32)
• Consequence: BAALC-AS1 ENST00000734532.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0950
• Publications: 4 publications found

Genes affected

BAALC-AS1 (HGNC:50461): (BAALC antisense RNA 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.968 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000734532.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BAALC-AS1	ENST00000734532.1		n.129+30177A>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.818 AC: 124338 AN: 152028 Hom.: 51078 Cov.: 32

Gnomad AFR AF: 0.862

Gnomad AMI AF: 0.784

Gnomad AMR AF: 0.857

Gnomad ASJ AF: 0.718

Gnomad EAS AF: 0.991

Gnomad SAS AF: 0.836

Gnomad FIN AF: 0.835

Gnomad MID AF: 0.690

Gnomad NFE AF: 0.771

Gnomad OTH AF: 0.803

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

GnomAD4 genome AF: 0.818 AC: 124442 AN: 152146 Hom.: 51122 Cov.: 32 AF XY: 0.823 AC XY: 61226 AN XY: 74380

African (AFR) AF: 0.862 AC: 35794 AN: 41506

American (AMR) AF: 0.857 AC: 13105 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.718 AC: 2492 AN: 3470

East Asian (EAS) AF: 0.991 AC: 5138 AN: 5186

South Asian (SAS) AF: 0.835 AC: 4018 AN: 4812

European-Finnish (FIN) AF: 0.835 AC: 8840 AN: 10586

Middle Eastern (MID) AF: 0.684 AC: 201 AN: 294

European-Non Finnish (NFE) AF: 0.771 AC: 52446 AN: 67986

Other (OTH) AF: 0.805 AC: 1696 AN: 2106

Alfa AF: 0.783 Hom.: 65209

Bravo AF: 0.823

Asia WGS AF: 0.916 AC: 3186 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	3.0
DANN	Benign	0.58
PhyloP100		0.095

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs951826;

hg19: chr8-104353333;