2-232586209-C-T

Variant names:

• chr2-232586209-C-T
• rs2276560
• ENST00000595732.5:n.982G>A

Variant summary

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

The ENST00000595732.5(ENSG00000237126):​n.982G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.759 in 151,898 control chromosomes in the GnomAD database, including 44,078 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 0.76 (44075 hom., cov: 30)
  • Exomes 𝑓: 0.75 (3 hom.)
• Consequence: ENSG00000237126 ENST00000595732.5 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.515
• Publications: 10 publications found

Genes affected

ENSG00000237126 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.799 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105373929	NR_187950.1	n.1179G>A		non_coding_transcript_exon_variant	Exon 5 of 8
LOC105373929	NR_187951.1	n.766-1666G>A		intron_variant	Intron 3 of 4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000237126	ENST00000595732.5	n.982G>A		non_coding_transcript_exon_variant	Exon 5 of 6	5
ENSG00000237126	ENST00000601434.6	n.281G>A		non_coding_transcript_exon_variant	Exon 1 of 4	5
ENSG00000237126	ENST00000415506.6	n.409+483G>A		intron_variant	Intron 3 of 5	5

Frequencies

GnomAD3 genomes AF: 0.759 AC: 115236 AN: 151772 Hom.: 44040 Cov.: 30

Gnomad AFR AF: 0.807

Gnomad AMI AF: 0.665

Gnomad AMR AF: 0.631

Gnomad ASJ AF: 0.743

Gnomad EAS AF: 0.766

Gnomad SAS AF: 0.807

Gnomad FIN AF: 0.792

Gnomad MID AF: 0.764

Gnomad NFE AF: 0.753

Gnomad OTH AF: 0.726

GnomAD4 exome AF: 0.750 AC: 6 AN: 8 Hom.: 3 Cov.: 0 AF XY: 0.667 AC XY: 4 AN XY: 6

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AC: 0 AN: 0

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AC: 0 AN: 0

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AF: 0.750 AC: 6 AN: 8

Other (OTH) AC: 0 AN: 0

GnomAD4 genome AF: 0.759 AC: 115323 AN: 151890 Hom.: 44075 Cov.: 30 AF XY: 0.760 AC XY: 56415 AN XY: 74232

African (AFR) AF: 0.807 AC: 33411 AN: 41426

American (AMR) AF: 0.631 AC: 9619 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.743 AC: 2573 AN: 3462

East Asian (EAS) AF: 0.768 AC: 3956 AN: 5154

South Asian (SAS) AF: 0.807 AC: 3880 AN: 4810

European-Finnish (FIN) AF: 0.792 AC: 8348 AN: 10542

Middle Eastern (MID) AF: 0.771 AC: 225 AN: 292

European-Non Finnish (NFE) AF: 0.753 AC: 51175 AN: 67936

Other (OTH) AF: 0.728 AC: 1531 AN: 2104

Alfa AF: 0.753 Hom.: 67751

Bravo AF: 0.747

Asia WGS AF: 0.762 AC: 2651 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.8
DANN	Benign	0.72
PhyloP100		-0.52

Splicing

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

Other links and lift over

dbSNP: rs2276560; hg19: chr2-233450919;