chr8-118657129-A-G

Variant names:

• chr8-118657129-A-G
• rs769322
• ENST00000625758.3:n.811-11321A>G

Variant summary

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

The ENST00000625758.3(SAMD12-AS1):​n.811-11321A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.496 in 152,120 control chromosomes in the GnomAD database, including 22,147 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 0.50 (22147 hom., cov: 33)
• Consequence: SAMD12-AS1 ENST00000625758.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.24
• Publications: 7 publications found

Genes affected

SAMD12-AS1 (HGNC:30937): (SAMD12 antisense RNA 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.629 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SAMD12-AS1	NR_038210.1	n.308-11321A>G		intron_variant	Intron 2 of 4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SAMD12-AS1	ENST00000625758.3	n.811-11321A>G		intron_variant	Intron 2 of 7	5
SAMD12-AS1	ENST00000629661.1	n.102-11321A>G		intron_variant	Intron 1 of 4	5
SAMD12-AS1	ENST00000658340.1	n.263-11321A>G		intron_variant	Intron 1 of 7

Frequencies

GnomAD3 genomes AF: 0.497 AC: 75475 AN: 152002 Hom.: 22147 Cov.: 33

Gnomad AFR AF: 0.177

Gnomad AMI AF: 0.586

Gnomad AMR AF: 0.634

Gnomad ASJ AF: 0.559

Gnomad EAS AF: 0.318

Gnomad SAS AF: 0.535

Gnomad FIN AF: 0.696

Gnomad MID AF: 0.566

Gnomad NFE AF: 0.634

Gnomad OTH AF: 0.542

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

GnomAD4 genome AF: 0.496 AC: 75478 AN: 152120 Hom.: 22147 Cov.: 33 AF XY: 0.501 AC XY: 37259 AN XY: 74332

African (AFR) AF: 0.177 AC: 7345 AN: 41526

American (AMR) AF: 0.634 AC: 9678 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.559 AC: 1938 AN: 3468

East Asian (EAS) AF: 0.319 AC: 1652 AN: 5186

South Asian (SAS) AF: 0.535 AC: 2581 AN: 4822

European-Finnish (FIN) AF: 0.696 AC: 7364 AN: 10576

Middle Eastern (MID) AF: 0.568 AC: 167 AN: 294

European-Non Finnish (NFE) AF: 0.634 AC: 43079 AN: 67966

Other (OTH) AF: 0.540 AC: 1141 AN: 2114

Alfa AF: 0.597 Hom.: 14398

Bravo AF: 0.478

Asia WGS AF: 0.366 AC: 1276 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	5.2
DANN	Benign	0.64
PhyloP100		1.2

Splicing

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

Other links and lift over

dbSNP: rs769322; hg19: chr8-119669368;