rs2201728

Variant names:

• chr4-99242716-G-A
• rs2201728
• ENST00000500358.6:n.3789+38285G>A

Your query was ambiguous. Multiple possible variants found:

• chr4-99242716-G-A
• chr4-99242716-G-T

Variant summary

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

The ENST00000500358.6(ENSG00000246090):​n.3789+38285G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.375 in 151,986 control chromosomes in the GnomAD database, including 12,111 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 0.38 (12111 hom., cov: 32)
• Consequence: ENSG00000246090 ENST00000500358.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.741
• Publications: 11 publications found

Genes affected

ENSG00000246090 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.04).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.492 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000500358.6. 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
	LOC100507053	NR_037884.1		n.3789+38285G>A		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000246090	ENST00000500358.6	TSL:1	n.3789+38285G>A		intron	N/A
	ENSG00000246090	ENST00000506160.1	TSL:4	n.408-35737G>A		intron	N/A
	ENSG00000246090	ENST00000506454.2	TSL:3	n.169-10119G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.375 AC: 56963 AN: 151866 Hom.: 12109 Cov.: 32

Gnomad AFR AF: 0.183

Gnomad AMI AF: 0.509

Gnomad AMR AF: 0.501

Gnomad ASJ AF: 0.544

Gnomad EAS AF: 0.133

Gnomad SAS AF: 0.215

Gnomad FIN AF: 0.481

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.465

Gnomad OTH AF: 0.428

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

GnomAD4 genome AF: 0.375 AC: 56996 AN: 151986 Hom.: 12111 Cov.: 32 AF XY: 0.373 AC XY: 27711 AN XY: 74284

African (AFR) AF: 0.183 AC: 7575 AN: 41464

American (AMR) AF: 0.501 AC: 7652 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.544 AC: 1886 AN: 3464

East Asian (EAS) AF: 0.133 AC: 687 AN: 5156

South Asian (SAS) AF: 0.217 AC: 1048 AN: 4820

European-Finnish (FIN) AF: 0.481 AC: 5072 AN: 10540

Middle Eastern (MID) AF: 0.401 AC: 118 AN: 294

European-Non Finnish (NFE) AF: 0.465 AC: 31593 AN: 67954

Other (OTH) AF: 0.426 AC: 901 AN: 2116

Alfa AF: 0.283 Hom.: 778

Bravo AF: 0.371

Asia WGS AF: 0.222 AC: 774 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	0.82
DANN	Benign	0.15
PhyloP100		-0.74

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: rs2201728;

hg19: chr4-100163873;