ENST00000420000.6:n.201-17107A>C

Variant names:

• chr3-3399757-T-G
• rs7645357
• ENST00000420000.6:n.201-17107A>C

Variant summary

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

The ENST00000420000.6(ENSG00000223727):​n.201-17107A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.42 in 151,980 control chromosomes in the GnomAD database, including 16,981 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 0.42 (16981 hom., cov: 32)
• Consequence: ENSG00000223727 ENST00000420000.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.827
• Publications: 3 publications found

Genes affected

ENSG00000223727 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.793 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000420000.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000223727	ENST00000420000.6	TSL:4	n.201-17107A>C		intron	N/A
	ENSG00000223727	ENST00000451031.5	TSL:3	n.175+41151A>C		intron	N/A
	ENSG00000223727	ENST00000455703.1	TSL:2	n.60-17107A>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.420 AC: 63725 AN: 151862 Hom.: 16951 Cov.: 32

Gnomad AFR AF: 0.734

Gnomad AMI AF: 0.201

Gnomad AMR AF: 0.348

Gnomad ASJ AF: 0.300

Gnomad EAS AF: 0.813

Gnomad SAS AF: 0.363

Gnomad FIN AF: 0.245

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.256

Gnomad OTH AF: 0.383

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

GnomAD4 genome AF: 0.420 AC: 63819 AN: 151980 Hom.: 16981 Cov.: 32 AF XY: 0.419 AC XY: 31117 AN XY: 74270

African (AFR) AF: 0.734 AC: 30418 AN: 41434

American (AMR) AF: 0.348 AC: 5319 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.300 AC: 1038 AN: 3460

East Asian (EAS) AF: 0.813 AC: 4181 AN: 5140

South Asian (SAS) AF: 0.363 AC: 1741 AN: 4798

European-Finnish (FIN) AF: 0.245 AC: 2590 AN: 10580

Middle Eastern (MID) AF: 0.360 AC: 105 AN: 292

European-Non Finnish (NFE) AF: 0.256 AC: 17429 AN: 67970

Other (OTH) AF: 0.386 AC: 815 AN: 2114

Alfa AF: 0.297 Hom.: 9721

Bravo AF: 0.443

Asia WGS AF: 0.583 AC: 2025 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.4
DANN	Benign	0.44
PhyloP100		-0.83

Splicing

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

Other links and lift over

dbSNP: rs7645357; hg19: chr3-3441441;