rs210837

Variant names:

• chr17-34408150-A-G
• rs210837
• ENST00000749544.1:n.250+1174A>G

Your query was ambiguous. Multiple possible variants found:

• chr17-34408150-A-G
• chr17-34408150-A-T

Variant summary

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

The ENST00000749544.1(ENSG00000297644):​n.250+1174A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.824 in 151,920 control chromosomes in the GnomAD database, including 52,603 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 (52603 hom., cov: 30)
• Consequence: ENSG00000297644 ENST00000749544.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0340
• Publications: 8 publications found

Genes affected

ENSG00000297644 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.904 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000749544.1. 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
	ENSG00000297644	ENST00000749544.1		n.250+1174A>G		intron	N/A
	ENSG00000297644	ENST00000749545.1		n.228+1174A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.824 AC: 125027 AN: 151802 Hom.: 52572 Cov.: 30

Gnomad AFR AF: 0.635

Gnomad AMI AF: 0.951

Gnomad AMR AF: 0.887

Gnomad ASJ AF: 0.919

Gnomad EAS AF: 0.827

Gnomad SAS AF: 0.812

Gnomad FIN AF: 0.865

Gnomad MID AF: 0.908

Gnomad NFE AF: 0.910

Gnomad OTH AF: 0.844

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

GnomAD4 genome AF: 0.824 AC: 125112 AN: 151920 Hom.: 52603 Cov.: 30 AF XY: 0.823 AC XY: 61108 AN XY: 74206

African (AFR) AF: 0.635 AC: 26291 AN: 41374

American (AMR) AF: 0.887 AC: 13546 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.919 AC: 3190 AN: 3472

East Asian (EAS) AF: 0.827 AC: 4252 AN: 5140

South Asian (SAS) AF: 0.812 AC: 3905 AN: 4808

European-Finnish (FIN) AF: 0.865 AC: 9123 AN: 10544

Middle Eastern (MID) AF: 0.905 AC: 266 AN: 294

European-Non Finnish (NFE) AF: 0.910 AC: 61885 AN: 67994

Other (OTH) AF: 0.847 AC: 1789 AN: 2112

Alfa AF: 0.883 Hom.: 212890

Bravo AF: 0.818

Asia WGS AF: 0.829 AC: 2881 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	2.0
DANN	Benign	0.52
PhyloP100		-0.034

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: rs210837;

hg19: chr17-32735169;